PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.
PMID:35902925
Molecular Profiles of Serum-Derived Extracellular Vesicles in High-Grade Serous Ovarian Cancer.
PMID:35892848
Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.
PMID:35884575
Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.
PMID:35884448
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides.
PMID:35875117
Discovery of a lectin domain that regulates enzyme activity in mouse N-acetylglucosaminyltransferase-IVa (MGAT4A).
PMID:35854001
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.
PMID:35794153
PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms.
PMID:35782867
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population.
PMID:35778737
Genetic analysis of Japanese patients with small bowel adenocarcinoma using next-generation sequencing.
PMID:35778698
Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
PMID:35778412
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
PMID:35759000
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
PMID:35739291
Interpreting protein variant effects with computational predictors and deep mutational scanning.
PMID:35736673
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.
PMID:35723297
The tumor mutational landscape of BRCA2-deficient primary and metastatic prostate cancer.
PMID:35715489
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
PMID:35706047
Synergistic engineering of CRISPR-Cas nucleases enables robust mammalian genome editing.
PMID:35693153
Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta.
PMID:35693066
Engineering of near-PAMless adenine base editor with enhanced editing activity and reduced off-target.
PMID:35664696
Allele-informed copy number evaluation of plasma DNA samples from metastatic prostate cancer patients: the PCF_SELECT consortium assay.
PMID:35664542
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
PMID:35618720
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies.
PMID:35597177
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
PMID:35574020
Recombination affects allele-specific expression of deleterious variants in human populations.
PMID:35559670
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
PMID:35507592
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
PMID:35502621
KmerKeys: a web resource for searching indexed genome assemblies and variants.
PMID:35474383
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs.
PMID:35463004
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.
PMID:35456375
AmazonForest: In Silico Metaprediction of Pathogenic Variants.
PMID:35453737
'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.
PMID:35427475
Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease.
PMID:35415203
ERBB2 Mutations as Potential Predictors for Recurrence in Colorectal Serrated Polyps by Targeted Next-Generation Sequencing.
PMID:35402217
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.
PMID:35388601
RNA sequencing role and application in clinical diagnostic.
PMID:35382420
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.
PMID:35365635
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
PMID:35330423
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
PMID:35325485
Evolution of germline TP53 variant classification in children with cancer.
PMID:35306447
Dominant negative effects of SCN5A missense variants.
PMID:35305865
Stress Reactivity, Susceptibility to Hypertension, and Differential Expression of Genes in Hypertensive Compared to Normotensive Patients.
PMID:35269977
Investigating the Effects of Amino Acid Variations in Human Menin.
PMID:35268848
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
PMID:35266334
Structural and functional analysis of the human cone-rod homeobox transcription factor.
PMID:35255174
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies.
PMID:35250806
Scalable Dual-Fluorescence Assay for Functional Interpretation of HNF-4α Missense Variants.
PMID:35237236
Gene editing and its applications in biomedicine.
PMID:35235150
Computational Resources for the Interpretation of Variations in Cancer.
PMID:35230689
Efficient targeted insertion of large DNA fragments without DNA donors.
PMID:35228726
An algorithm for optimal testing in co-segregation analysis.
PMID:35225377
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.
PMID:35216679
Current and Future Approaches to Classify VUSs in LGMD-Related Genes.
PMID:35205425
Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.
PMID:35186718
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
PMID:35180879
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
PMID:35176222
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.
PMID:35169226
A Syndrome of Variable Allergy, Short Stature, and Fatty Liver.
PMID:35140738
The properties of human disease mutations at protein interfaces.
PMID:35120134
A clinician's guide to omics resources in dermatology.
PMID:35104371
Context dependency of nucleotide probabilities and variants in human DNA.
PMID:35100973
Population-Based Penetrance of Deleterious Clinical Variants.
PMID:35076666
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
PMID:35070997
Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.
PMID:35055428
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
PMID:35055388
Prediction and analysis of functional RNA structures within the integrative genomics viewer.
PMID:35047817
A comparison on predicting functional impact of genomic variants.
PMID:35047814
Proteome-scale mapping of binding sites in the unstructured regions of the human proteome.
PMID:35044719
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
PMID:35043155
Identification of putative genetic variants in major depressive disorder patients in Pakistan.
PMID:35040003
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
PMID:35039090
Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.
PMID:35033101
Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.
PMID:35033063
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
PMID:35031858
Analysis of coding variants in the human FTO gene from the gnomAD database.
PMID:34990463
The first comprehensive database of germline pathogenic variants in East Asian cancer patients.
PMID:34964846
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins.
PMID:34938415
In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure.
PMID:34930451
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing.
PMID:34925456
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
PMID:34915860
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
PMID:34906245
An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.
PMID:34890165
Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing.
PMID:34887556
Computational analysis of cancer genome sequencing data.
PMID:34880424
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
PMID:34863162
Decoding the effects of synonymous variants.
PMID:34850938
Facilitating Antiviral Drug Discovery Using Genetic and Evolutionary Knowledge.
PMID:34834924
Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations.
PMID:34824904
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
PMID:34815418
The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients.
PMID:34799695
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
PMID:34793697
Ensembl 2022.
PMID:34791404
Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas.
PMID:34771600
VPMBench: a test bench for variant prioritization methods.
PMID:34749640
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
PMID:34746235
A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.
PMID:34739849
Gene4HL: An Integrated Genetic Database for Hearing Loss.
PMID:34733322
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
PMID:34714320
Machine learning applications for therapeutic tasks with genomics data.
PMID:34693370
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing.
PMID:34690123
Global quantification exposes abundant low-level off-target activity by base editors.
PMID:34667118
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans.
PMID:34664660
Comprehensive landscape and interference of clonal haematopoiesis mutations for liquid biopsy: A Chinese pan-cancer cohort.
PMID:34658138
Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.
PMID:34657357
Deletion and replacement of long genomic sequences using prime editing.
PMID:34650270
Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.
PMID:34649609
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
PMID:34645894
Exome Sequencing of Pancreatic Acinar Carcinoma Identified Distinctive Mutation Patterns.
PMID:34629449
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.
PMID:34616436
A CIBERSORTx-based immune cell scoring system could independently predict the prognosis of patients with myelodysplastic syndromes.
PMID:34614508
Contribution of rare variant associations to neurodegenerative disease presentation.
PMID:34584092
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
PMID:34573422
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.
PMID:34564308
Biomedical Data Commons (BMDC) prioritizes B-lymphocyte non-coding genetic variants in Type 1 Diabetes.
PMID:34543288
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
PMID:34535384
DNA double-strand break repair in cancer: A path to achieving precision medicine.
PMID:34507781
Protein-gene Expression Nexus: Comprehensive characterization of human cancer cell lines with proteogenomic analysis.
PMID:34504668
Distinct genetic landscape and a low response to doxorubicin in a luminal-A breast cancer cell line of Pakistani origin.
PMID:34495459
Packpred: Predicting the Functional Effect of Missense Mutations.
PMID:34490344
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.
PMID:34478472
Prospects and challenges of cancer systems medicine: from genes to disease networks.
PMID:34471925
A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.
PMID:34465349
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.
PMID:34449562
Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity.
PMID:34446728
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.
PMID:34440331
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
PMID:34440290
The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.
PMID:34435752
Predicting base editing outcomes with an attention-based deep learning algorithm trained on high-throughput target library screens.
PMID:34433819
A global map of associations between types of protein posttranslational modifications and human genetic diseases.
PMID:34430807
Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
PMID:34423584
Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.
PMID:34408162
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
PMID:34393998
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
PMID:34381078
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
PMID:34374940
Molecular and Pathological Profiling of Corresponding Treatment-Naïve and Neoadjuvant Pazopanib-Treated High-Risk Soft Tissue Sarcoma Samples of the GISG-04/NOPASS Study.
PMID:34356494
Decoding disease: from genomes to networks to phenotypes.
PMID:34341555
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
PMID:34322384
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
PMID:34315874
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance.
PMID:34314704
MUSTARD-a comprehensive resource of mutation-specific therapies in cancer.
PMID:34309639
Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer.
PMID:34306573
Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.
PMID:34301881
Genomic Risk Prediction for Breast Cancer in Older Women.
PMID:34298747
Germline and Somatic mutations in postmenopausal breast cancer patients.
PMID:34287479
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
PMID:34285288
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.
PMID:34277001
Molecular classification of blood and bleeding disorder genes.
PMID:34272389
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations.
PMID:34267306
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
PMID:34267211
Disruptive Selection of Human Immunostimulatory and Immunosuppressive Genes Both Provokes and Prevents Rheumatoid Arthritis, Respectively, as a Self-Domestication Syndrome.
PMID:34239535
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
PMID:34230640
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.
PMID:34220960
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
PMID:34220947
SNP-mediated lncRNA-ENTPD3-AS1 upregulation suppresses renal cell carcinoma via miR-155/HIF-1α signaling.
PMID:34218253
Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series.
PMID:34212557
The effect of protein mutations on drug binding suggests ensuing personalised drug selection.
PMID:34188094
Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
PMID:34178674
Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population.
PMID:34178030
Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.
PMID:34174931
Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology.
PMID:34162978
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.
PMID:34153989
Distinguishing between PTEN clinical phenotypes through mutation analysis.
PMID:34141133
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
PMID:34135346
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
PMID:34127679
DGLinker: flexible knowledge-graph prediction of disease-gene associations.
PMID:34125897
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
PMID:34099697
Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
PMID:34069212
Rare variants regulate expression of nearby individual genes in multiple tissues.
PMID:34061836
Deep conservation of ribosome stall sites across RNA processing genes.
PMID:34056595
Large-scale identification of protein histidine methylation in human cells.
PMID:34046594
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
PMID:34045478
WEVar: a novel statistical learning framework for predicting noncoding regulatory variants.
PMID:34021560
Activity of PD-1 blockade with nivolumab among patients with recurrent atypical/anaplastic meningioma: phase II trial results.
PMID:34015129
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
PMID:34012380
Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
PMID:34012022
Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
PMID:34011801
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
PMID:34002542
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
PMID:34002094
Prediction of Synergistic Drug Combinations for Prostate Cancer by Transcriptomic and Network Characteristics.
PMID:33986671
Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.
PMID:33986331
Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.
PMID:33973092
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia.
PMID:33967275
Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.
PMID:33936175
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
PMID:33932343
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.
PMID:33931648
FGFR2 Extracellular Domain In-Frame Deletions Are Therapeutically Targetable Genomic Alterations That Function as Oncogenic Drivers in Cholangiocarcinoma.
PMID:33926920
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.
PMID:33925997
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms.
PMID:33919541
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
PMID:33917078
Next Generation Sequencing Technology in the Clinic and Its Challenges.
PMID:33916923
Comprehensive genomic analysis contrasting primary colorectal cancer and matched liver metastases.
PMID:33907576
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
PMID:33891002
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.
PMID:33890823
Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident.
PMID:33888599
Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes.
PMID:33875481
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.
PMID:33875422
Rapid and accurate nucleobase detection using FnCas9 and its application in COVID-19 diagnosis.
PMID:33866136
Genetic basis of hypercholesterolemia in adults.
PMID:33854068
Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.
PMID:33848333
Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor.
PMID:33820980
Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development.
PMID:33806076
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
PMID:33804237
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
PMID:33800365
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
PMID:33799353
Gene Tracer: A smart, interactive, voice-controlled Alexa skill for gene information retrieval and browsing, mutation annotation, and network visualization.
PMID:33792640
Whole Genome Interpretation for a Family of Five.
PMID:33763108
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.
PMID:33761318
ATAV: a comprehensive platform for population-scale genomic analyses.
PMID:33757430
PTENε suppresses tumor metastasis through regulation of filopodia formation.
PMID:33755220
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
PMID:33747920
Impaired Intestinal Sodium Transport in Inflammatory Bowel Disease: From the Passenger to the Driver's Seat.
PMID:33744482
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.
PMID:33732635
Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.
PMID:33727697
A showcase study on personalized in silico drug response prediction based on the genetic landscape of muscle invasive bladder cancer.
PMID:33712636
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
PMID:33691754
Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry.
PMID:33671795
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.
PMID:33670833
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.
PMID:33664247
TMSNP: a web server to predict pathogenesis of missense mutations in the transmembrane region of membrane proteins.
PMID:33655207
PnB Designer: a web application to design prime and base editor guide RNAs for animals and plants.
PMID:33653259
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.
PMID:33638707
Predicting dynamic cellular protein-RNA interactions by deep learning using in vivo RNA structures.
PMID:33623109
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.
PMID:33617468
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.
PMID:33606250
Base editing and prime editing in laboratory animals.
PMID:33596731
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
PMID:33589474
Identification and analysis of RNA structural disruptions induced by single nucleotide variants using Riprap and RiboSNitchDB.
PMID:33575608
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
PMID:33562463
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
PMID:33555556
Understanding protein structural changes for oncogenic missense variants.
PMID:33553733
Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
PMID:33552952
Implementing genomic screening in diverse populations.
PMID:33546753
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
PMID:33546721
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
PMID:33542268
Systematic analysis of purified astrocytes after SCI unveils Zeb2os function during astrogliosis.
PMID:33535036
Gene-based therapies for neurodegenerative diseases.
PMID:33526943
The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer's disease mutations.
PMID:33522485
Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women.
PMID:33503363
In-depth and 3-dimensional exploration of the budding yeast phosphoproteome.
PMID:33491328
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
PMID:33480803
Precision genome editing using cytosine and adenine base editors in mammalian cells.
PMID:33462442
Making sense of missense variants in TTN-related congenital myopathies.
PMID:33449170
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
PMID:33429865
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
PMID:33428613
Untangling a complex web: Computational analyses of tumor molecular profiles to decode driver mechanisms.
PMID:33423960
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer.
PMID:33420416
Transcriptomic landscaping of core genes and pathways of mild and severe psoriasis vulgaris.
PMID:33416099
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
PMID:33415332
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.
PMID:33398295
HER2 Status in High-Risk Endometrial Cancers (PORTEC-3): Relationship with Histotype, Molecular Classification, and Clinical Outcomes.
PMID:33375706
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
PMID:33368787
Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.
PMID:33363700
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.
PMID:33346580
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
PMID:33345454
Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.
PMID:33343895
Determining homologous recombination deficiency scores with whole exome sequencing and their association with responses to neoadjuvant chemotherapy in breast cancer.
PMID:33340887
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
PMID:33333793
Germline Variation and Somatic Alterations in Ewing Sarcoma.
PMID:33326089
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
PMID:33326012
PEREGRINE: A genome-wide prediction of enhancer to gene relationships supported by experimental evidence.
PMID:33320871
Molecular characterization of ulcerative colitis-associated colorectal carcinomas.
PMID:33318582
Systematic review of CMTX1 patients with episodic neurological dysfunction.
PMID:33314704
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
PMID:33302505
Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
PMID:33283134
An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.
PMID:33261099
ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls.
PMID:33258967
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
PMID:33256706
What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?
PMID:33256133
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
PMID:33255942
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
PMID:33243178
Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives.
PMID:33240932
Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.
PMID:33238891
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
PMID:33226070
Multiplexed Functional Assessment of Genetic Variants in CARD11.
PMID:33202260
Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants.
PMID:33196774
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
PMID:33195396
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.
PMID:33193618
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma.
PMID:33171023
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
PMID:33168985
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data.
PMID:33154511
Ensembl 2021.
PMID:33137190
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017.
PMID:33127389
circVAR database: genome-wide archive of genetic variants for human circular RNAs.
PMID:33121433
LncRBase V.2: an updated resource for multispecies lncRNAs and ClinicLSNP hosting genetic variants in lncRNAs for cancer patients.
PMID:33112702
Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations.
PMID:33111480
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.
PMID:33110059
Developmental constraint shaped genome evolution and erythrocyte loss in Antarctic fishes following paleoclimate change.
PMID:33108368
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
PMID:33095315
Newly established gastrointestinal cancer cell lines retain the genomic and immunophenotypic landscape of their parental cancers.
PMID:33087752
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
PMID:33083011
CUBAP: an interactive web portal for analyzing codon usage biases across populations.
PMID:33045750
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
PMID:33034563
inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing.
PMID:33029071
Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome.
PMID:33020491
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing.
PMID:32985468
Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.
PMID:32973300
Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.
PMID:32970680
Transposon clusters as substrates for aberrant splice-site activation.
PMID:32965162
Identification of pathogenic missense mutations using protein stability predictors.
PMID:32958805
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
PMID:32943903
Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer.
PMID:32924180
Subsequent Neoplasm Risk Associated With Rare Variants in DNA Damage Response and Clinical Radiation Sensitivity Syndrome Genes in the Childhood Cancer Survivor Study.
PMID:32923912
Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience.
PMID:32913998
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
PMID:32911714
multicrispr: gRNA design for prime editing and parallel targeting of thousands of targets.
PMID:32907859
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
PMID:32906214
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease.
PMID:32898862
Epidemiology of the inherited cardiomyopathies.
PMID:32895535
PCOSKBR2: a database of genes, diseases, pathways, and networks associated with polycystic ovary syndrome.
PMID:32895427
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
PMID:32888494
A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations.
PMID:32884933
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.
PMID:32870157
Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.
PMID:32866655
Translating Embryogenesis to Generate Organoids: Novel Approaches to Personalized Medicine.
PMID:32864586
GLI1 activation is a key mechanism of erlotinib resistance in human non-small cell lung cancer.
PMID:32863909
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
PMID:32853339
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
PMID:32831124
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
PMID:32827758
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
PMID:32824926
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.
PMID:32813752
Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia.
PMID:32811132
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
PMID:32807182
Identification of Undetected Monogenic Cardiovascular Disorders.
PMID:32792077
Causal Genetic Variants in Stillbirth.
PMID:32786180
Prognostic impact of TP53 mutation, monosomal karyotype, and prior myeloid disorder in nonremission acute myeloid leukemia at allo-HSCT.
PMID:32760007
Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates.
PMID:32754195
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.
PMID:32747829
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
PMID:32746785
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
PMID:32735577
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data.
PMID:32734171
Landscape of cohesin-mediated chromatin loops in the human genome.
PMID:32728247
AcrIIA5 Suppresses Base Editors and Reduces Their Off-Target Effects.
PMID:32727031
Genetics of extreme human longevity to guide drug discovery for healthy ageing.
PMID:32719537
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
PMID:32707200
Predicting the effect of variants on splicing using Convolutional Neural Networks.
PMID:32704450
MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature.
PMID:32703994
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.
PMID:32698834
The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.
PMID:32692746
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
PMID:32685350
Cross-species oncogenic signatures of breast cancer in canine mammary tumors.
PMID:32680987
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
PMID:32668698
Unified inference of missense variant effects and gene constraints in the human genome.
PMID:32667917
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
PMID:32666661
Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.
PMID:32655615
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
PMID:32641407
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.
PMID:32634176
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations.
PMID:32627955
Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.
PMID:32624484
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing.
PMID:32623783
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
PMID:32612247
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
PMID:32606442
High mutation burden of circulating cell-free DNA in early-stage breast cancer patients is associated with a poor relapse-free survival.
PMID:32602248
A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.
PMID:32575372
Disrupted minor intron splicing is prevalent in Mendelian disorders.
PMID:32573973
Evaluation of methods for detecting human reads in microbial sequencing datasets.
PMID:32558637
An integrated Asian human SNV and indel benchmark established using multiple sequencing methods.
PMID:32555294
LC-FACSeq is a method for detecting rare clones in leukemia.
PMID:32554930
Exploring and visualizing large-scale genetic associations by using PheWeb.
PMID:32504056
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
PMID:32500119
In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness.
PMID:32493795
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
PMID:32492030
SCDb: an integrated database of stomach cancer.
PMID:32487193
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
PMID:32486089
Genetic testing strategies in the newborn.
PMID:32472107
Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.
PMID:32467882
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
PMID:32467344
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
PMID:32461616
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
PMID:32461613
Combined TP53 and RB1 Loss Promotes Prostate Cancer Resistance to a Spectrum of Therapeutics and Confers Vulnerability to Replication Stress.
PMID:32460015
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
PMID:32447495
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.
PMID:32442409
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
PMID:32439066
Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity.
PMID:32433547
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing.
PMID:32429412
Quantifying genetic effects on disease mediated by assayed gene expression levels.
PMID:32424349
Gene networks and expression quantitative trait loci associated with adjuvant chemotherapy response in high-grade serous ovarian cancer.
PMID:32404140
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.
PMID:32389220
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
PMID:32355288
Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
PMID:32342790
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
PMID:32295625
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.
PMID:32295532
Design and analysis of CRISPR-Cas experiments.
PMID:32284587
Directed evolution of adenine base editors with increased activity and therapeutic application.
PMID:32284586
Prevalence of clinically actionable disease variants in exceptionally long-lived families.
PMID:32272925
Molecular Trajectory of BRCA1 and BRCA2 Mutations.
PMID:32269964
Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.
PMID:32257056
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
PMID:32244554
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
PMID:32238909
Defining an embryonal rhabdomyosarcoma endotype.
PMID:32238403
In Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene.
PMID:32236879
Integrated Informatics Analysis of Cancer-Related Variants.
PMID:32228266
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.
PMID:32225167
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
PMID:32225115
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study.
PMID:32218412
Ethnogeographic and inter-individual variability of human ABC transporters.
PMID:32206879
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
PMID:32172433
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
PMID:32165484
A decision tree to improve identification of pathogenic mutations in clinical practice.
PMID:32151256
KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing.
PMID:32133509
Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.
PMID:32127026
Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
PMID:32124385
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.
PMID:32123222
Adopting solutions for annotation and reporting of next generation sequencing in clinical practice.
PMID:32099889
Direct-to-Consumer Nutrigenetics Testing: An Overview.
PMID:32098227
Analysis of protein missense alterations by combining sequence- and structure-based methods.
PMID:32096919
Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.
PMID:32094176
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
PMID:32090079
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
PMID:32077105
Decoding a highly mixed Kazakh genome.
PMID:32076829
Tumor suppressor genes and allele-specific expression: mechanisms and significance.
PMID:32064050
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
PMID:32049305
Continuous evolution of SpCas9 variants compatible with non-G PAMs.
PMID:32042170
Pan-genomics in the human genome era.
PMID:32034321
Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.
PMID:32033288
Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations.
PMID:31988292
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
PMID:31981491
Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.
PMID:31971968
Germline cancer predisposition variants and pediatric glioma: a population-based study in California.
PMID:31970404
Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation.
PMID:31942419
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
PMID:31939736
Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses.
PMID:31937940
Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration.
PMID:31930186
A brief history of human disease genetics.
PMID:31915397
Natural and pathogenic protein sequence variation affecting prion-like domains within and across human proteomes.
PMID:31914925
Rare genetic variants in patients with cervical artery dissection.
PMID:31903434
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
PMID:31892343
Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data.
PMID:31874647
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
PMID:31862013
Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System.
PMID:31850066
FIREVAT: finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures.
PMID:31847917
Using mechanistic models for the clinical interpretation of complex genomic variation.
PMID:31831811
Clinicopathological and molecular characterisation of 'multiple-classifier' endometrial carcinomas.
PMID:31829447
SNP-CRISPR: A Web Tool for SNP-Specific Genome Editing.
PMID:31822517
A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information.
PMID:31821723
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
PMID:31820119
Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.
PMID:31797629
CERENKOV3: Clustering and molecular network-derived features improve computational prediction of functional noncoding SNPs.
PMID:31797625
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.
PMID:31779641
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
PMID:31779139
ClinVar: improvements to accessing data.
PMID:31777943
Genetic testing for hereditary gastrointestinal cancer syndromes: Interpreting results in today's practice.
PMID:31761969
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.
PMID:31760949
Ontology-based prediction of cancer driver genes.
PMID:31757986
MiRNA therapeutics based on logic circuits of biological pathways.
PMID:31757209
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
PMID:31754021
An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer.
PMID:31748686
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.
PMID:31748410
Discovery of disease- and drug-specific pathways through community structures of a literature network.
PMID:31738408
Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.
PMID:31729605
Clinical and genetic variability in children with partial albinism.
PMID:31719542
Yield of next-generation neuropathy gene panels in axonal neuropathies.
PMID:31701603
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.
PMID:31686460
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.
PMID:31679514
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
PMID:31672125
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
PMID:31653860
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives.
PMID:31649718
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
PMID:31635081
Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes.
PMID:31618044
VarSite: Disease variants and protein structure.
PMID:31606900
Rare-variant collapsing analyses for complex traits: guidelines and applications.
PMID:31605095
Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
PMID:31595719
RNAIndel: discovering somatic coding indels from tumor RNA-Seq data.
PMID:31593214
Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer.
PMID:31592503
A pediatric perspective on genomics and prevention in the twenty-first century.
PMID:31578042
Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing.
PMID:31575382
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
PMID:31569399
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
PMID:31544997
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.
PMID:31533369
Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations.
PMID:31517177
Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
PMID:31511843
Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.
PMID:31500242
Ceritinib-Induced Regression of an Insulin-Like Growth Factor-Driven Neuroepithelial Brain Tumor.
PMID:31480400
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
PMID:31477031
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
PMID:31469246
Whole-genome sequencing reveals distinct genetic bases for insulinomas and non-functional pancreatic neuroendocrine tumours: leading to a new classification system.
PMID:31462556
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy.
PMID:31452356
Off-Target Editing by CRISPR-Guided DNA Base Editors.
PMID:31433621
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.
PMID:31428572
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
PMID:31415627
Integrated Analysis of DNA Methylation and Biochemical/Metabolic Parameter During the Long-Term Isolation Environment.
PMID:31402871
Building evidence and measuring clinical outcomes for genomic medicine.
PMID:31395443
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.
PMID:31394823
Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.
PMID:31392414
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
PMID:31388035
Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.
PMID:31372034
Rare and common variant discovery in complex disease: the IBD case study.
PMID:31363759
Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing.
PMID:31360895
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
PMID:31328417
Prioritization of Variants for Investigation of Genotype-Directed Nutrition in Human Superpopulations.
PMID:31323740
Relation between DNA ionization potentials, single base substitutions and pathogenic variants.
PMID:31307386
Efficient base editing by RNA-guided cytidine base editors (CBEs) in pigs.
PMID:31302752
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
PMID:31253775
Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease.
PMID:31249063
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
PMID:31227601
Effects of somatic alterations at pathway level are more mechanism-explanatory and clinically applicable to quantity of liver metastases of colorectal cancer.
PMID:31219228
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
PMID:31211624
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
PMID:31206626
Systems Chemical Genetics-Based Drug Discovery: Prioritizing Agents Targeting Multiple/Reliable Disease-Associated Genes as Drug Candidates.
PMID:31191604
A Deep Neural Network for Predicting and Engineering Alternative Polyadenylation.
PMID:31178116
hg19KIndel: ethnicity normalized human reference genome.
PMID:31170919
MTR-Viewer: identifying regions within genes under purifying selection.
PMID:31170280
An Effective Method to Measure Disease Similarity Using Gene and Phenotype Associations.
PMID:31164903
Mind the gap: resources required to receive, process and interpret research-returned whole genome data.
PMID:31161416
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.
PMID:31161195
Integrative Analysis of Somatic Mutations in Non-coding Regions Altering RNA Secondary Structures in Cancer Genomes.
PMID:31160636
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.
PMID:31160358
Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy.
PMID:31152682
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
PMID:31144778
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
PMID:31134136
Rare variant phasing using paired tumor:normal sequence data.
PMID:31132991
Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
PMID:31131559
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management.
PMID:31127704
Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.
PMID:31111659
Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors.
PMID:31110355
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
PMID:31104286
Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
PMID:31102422
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
PMID:31088393
Pathway-specific protein domains are predictive for human diseases.
PMID:31075101
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.
PMID:31053132
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
PMID:31050713
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.
PMID:31045209
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.
PMID:31037860
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
PMID:31034466
Proteogenomic Analysis of Human Colon Cancer Reveals New Therapeutic Opportunities.
PMID:31031003
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
PMID:31026367
Impact of Genetic Variation on CRISPR-Cas Targeting.
PMID:31021199
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
PMID:31015822
PGxO and PGxLOD: a reconciliation of pharmacogenomic knowledge of various provenances, enabling further comparison.
PMID:30999867
The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli's Syndrome.
PMID:30984525
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
PMID:30967900
Exome-wide survey of the Siberian Caucasian population.
PMID:30967127
Investigation of somatic single nucleotide variations in human endogenous retrovirus elements and their potential association with cancer.
PMID:30934003
Personalized Medicine and the Power of Electronic Health Records.
PMID:30901549
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.
PMID:30895400
Natural Selection Equally Supports the Human Tendencies in Subordination and Domination: A Genome-Wide Study With in silico Confirmation and in vivo Validation in Mice.
PMID:30873204
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.
PMID:30858532
mGAP: the macaque genotype and phenotype resource, a framework for accessing and interpreting macaque variant data, and identifying new models of human disease.
PMID:30841849
Federated discovery and sharing of genomic data using Beacons.
PMID:30833764
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.
PMID:30823901
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics.
PMID:30809243
A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record.
PMID:30797065
PheWAS-Based Systems Genetics Methods for Anti-Breast Cancer Drug Discovery.
PMID:30781719
Molecular modeling of LDLR aids interpretation of genomic variants.
PMID:30778614
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
PMID:30765821
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
PMID:30763456
A scalable, aggregated genotypic-phenotypic database for human disease variation.
PMID:30759220
How good are pathogenicity predictors in detecting benign variants?
PMID:30742610
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.
PMID:30741997
The effects of genomic germline variant reclassification on clinical cancer care.
PMID:30728895
CERENKOV2: improved detection of functional noncoding SNPs using data-space geometric features.
PMID:30727967
DeepPVP: phenotype-based prioritization of causative variants using deep learning.
PMID:30727941
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
PMID:30702160
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.
PMID:30686509
The utility of phenomics in diagnosis of inherited metabolic disorders.
PMID:30651242
Biological Interpretation of Complex Genomic Data.
PMID:30649721
Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement.
PMID:30640517
The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation.
PMID:30619486
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
PMID:30609406
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
PMID:30602777
Enabling precision medicine via standard communication of HTS provenance, analysis, and results.
PMID:30596645
Systematics for types and effects of DNA variations.
PMID:30591019
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PMID:30586411
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
PMID:30576320
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
PMID:30575854
A resource of variant effect predictions of single nucleotide variants in model organisms.
PMID:30573687
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
PMID:30565237
Challenges in Personalized Nutrition and Health.
PMID:30555829
Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
PMID:30555256
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.
PMID:30535219
PathFX provides mechanistic insights into drug efficacy and safety for regulatory review and therapeutic development.
PMID:30532240
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
PMID:30526861
Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis.
PMID:30509173
A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions.
PMID:30503770
SeqVItA: Sequence Variant Identification and Annotation Platform for Next Generation Sequencing Data.
PMID:30487811
High-frequency actionable pathogenic exome variants in an average-risk cohort.
PMID:30487145
Developing reproducible bioinformatics analysis workflows for heterogeneous computing environments to support African genomics.
PMID:30486782
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
PMID:30466042
OMIM.org: leveraging knowledge across phenotype-gene relationships.
PMID:30445645
OncoBase: a platform for decoding regulatory somatic mutations in human cancers.
PMID:30445567
Ontology-based validation and identification of regulatory phenotypes.
PMID:30423068
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
PMID:30418171
DrugThatGene: integrative analysis to streamline the identification of druggable genes, pathways and protein complexes from CRISPR screens.
PMID:30395160
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
PMID:30392543
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
PMID:30388402
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
PMID:30377230
SwissMTB: establishing comprehensive molecular cancer diagnostics in Swiss clinics.
PMID:30373609
CADD: predicting the deleteriousness of variants throughout the human genome.
PMID:30371827
CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance.
PMID:30361258
Heterogeneous network embedding for identifying symptom candidate genes.
PMID:30357378
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
PMID:30352563
Base editing: precision chemistry on the genome and transcriptome of living cells.
PMID:30323312
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
PMID:30311381
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
PMID:30311373
ClinGen's GenomeConnect registry enables patient-centered data sharing.
PMID:30311371
Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.
PMID:30309687
Genenames.org: the HGNC and VGNC resources in 2019.
PMID:30304474
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
PMID:30303537
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
PMID:30279426
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
PMID:30270359
Mutations of genes including DNMT3A detected by next-generation sequencing in thyroid cancer.
PMID:30252567
Exploring Genetic Data Across Individuals: Design and Evaluation of a Novel Comparative Report Tool.
PMID:30249582
Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High-Depth, Tumor-Only Sequencing Data.
PMID:30246169
A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function.
PMID:30219179
Proline provides site-specific flexibility for in vivo collagen.
PMID:30218106
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.
PMID:30217226
DES-Mutation: System for Exploring Links of Mutations and Diseases.
PMID:30190574
Cancer genetics, precision prevention and a call to action.
PMID:30158684
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.
PMID:30157810
Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.
PMID:30140897
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
PMID:30128325
Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing.
PMID:30120715
Identification of pathways and genes associated with cerebral palsy.
PMID:30109564
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
PMID:30095202
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
PMID:30090112
Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.
PMID:30089731
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family.
PMID:30072699
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
PMID:30060766
Integrative omics analyses broaden treatment targets in human cancer.
PMID:30053901
ADReCS-Target: target profiles for aiding drug safety research and application.
PMID:30053268
Computational Approaches to Prioritize Cancer Driver Missense Mutations.
PMID:30037003
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
PMID:30029678
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.
PMID:30022097
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
PMID:30019097
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
PMID:30012219
Network-based approach to prediction and population-based validation of in silico drug repurposing.
PMID:30002366
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.
PMID:29997612
Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.
PMID:29997359
Abundance of clinical variants in exons included in multiple transcripts.
PMID:29954439
Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire.
PMID:29946025
Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.
PMID:29936497
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
PMID:29907873
Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study.
PMID:29905378
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis.
PMID:29904720
Development of a consent resource for genomic data sharing in the clinical setting.
PMID:29899502
Uridine 5'-diphospho-glucronosyltrasferase: Its role in pharmacogenomics and human disease.
PMID:29896223
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
PMID:29895960
iMusta4SLC: Database for the structural property and variations of solute carrier transporters.
PMID:29892515
Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
PMID:29884173
Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations.
PMID:29880869
Somatic mutations in early onset luminal breast cancer.
PMID:29854292
Progress Toward Cancer Data Ecosystems.
PMID:29794537
Kinact: a computational approach for predicting activating missense mutations in protein kinases.
PMID:29788456
Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.
PMID:29785135
Multiplex assessment of protein variant abundance by massively parallel sequencing.
PMID:29785012
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.
PMID:29765130
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.
PMID:29764897
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
PMID:29750258
Genome sequencing in the clinic: the past, present, and future of genomic medicine.
PMID:29727589
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
PMID:29726959
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
PMID:29707261
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
PMID:29706352
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
PMID:29691392
Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines.
PMID:29667044
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
PMID:29664915
Biocuration: Distilling data into knowledge.
PMID:29659566
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
PMID:29649263
Inference of the human polyadenylation code.
PMID:29648582
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
PMID:29631995
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.
PMID:29621297
Facilitating Anti-Cancer Combinatorial Drug Discovery by Targeting Epistatic Disease Genes.
PMID:29570606
Biomedical informatics and machine learning for clinical genomics.
PMID:29566172
Prediction and interpretation of deleterious coding variants in terms of protein structural stability.
PMID:29540703
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
PMID:29539190
Evolved Cas9 variants with broad PAM compatibility and high DNA specificity.
PMID:29512652
Analysis of a gene panel for targeted sequencing of colorectal cancer samples.
PMID:29507673
Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters.
PMID:29504899
The human noncoding genome defined by genetic diversity.
PMID:29483654
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
PMID:29473246
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
PMID:29472286
Identification of genetic variants for clinical management of familial colorectal tumors.
PMID:29458332
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
PMID:29437798
Assessment of a new genomic classification system in acute myeloid leukemia with a normal karyotype.
PMID:29435155
A phenotype centric benchmark of variant prioritisation tools.
PMID:29423277
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
PMID:29422015
Estimating the mutational load for cardiovascular diseases in Pakistani population.
PMID:29420653
CoVaCS: a consensus variant calling system.
PMID:29402227
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
PMID:29369293
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.
PMID:29321672
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.
PMID:29300620
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
PMID:29281699
Bioinformatics for precision oncology.
PMID:29272324
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.
PMID:29263818
eGARD: Extracting associations between genomic anomalies and drug responses from text.
PMID:29261751
Co-expression Network Approach Reveals Functional Similarities among Diseases Affecting Human Skeletal Muscle.
PMID:29249983
Noncoding copy-number variations are associated with congenital limb malformation.
PMID:29236091
Pockets as structural descriptors of EGFR kinase conformations.
PMID:29228029
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.
PMID:29226803
Relaxed Selection During a Recent Human Expansion.
PMID:29187508
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
PMID:29181379
Organoids model distinct Vitamin E effects at different stages of prostate cancer evolution.
PMID:29176677
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.
PMID:29176389
Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families.
PMID:29168983
ClinVar: improving access to variant interpretations and supporting evidence.
PMID:29165669
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
PMID:29149851
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.
PMID:29145497
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
PMID:29144510
Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease.
PMID:29138457
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
PMID:29133643
ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.
PMID:29126202
Human gene essentiality.
PMID:29082913
Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.
PMID:29077933
Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.
PMID:29025585
Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR.
PMID:29021971
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
PMID:29021305
Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse.
PMID:28993407
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
PMID:28985712
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.
PMID:28968714
HUMA: A platform for the analysis of genetic variation in humans.
PMID:28967693
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
PMID:28960434
The population genetics of human disease: The case of recessive, lethal mutations.
PMID:28957316
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
PMID:28914264
CScape: a tool for predicting oncogenic single-point mutations in the cancer genome.
PMID:28912487
Variant Interpretation: Functional Assays to the Rescue.
PMID:28886340
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
PMID:28867931
Fate mapping of human glioblastoma reveals an invariant stem cell hierarchy.
PMID:28854171
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.
PMID:28851873
Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
PMID:28851476
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
PMID:28849312
Domain-based prediction of the human isoform interactome provides insights into the functional impact of alternative splicing.
PMID:28846689
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.
PMID:28840994
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
PMID:28829762
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
PMID:28825726
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
PMID:28819267
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.
PMID:28812537
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
PMID:28797091
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
PMID:28782058
Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.
PMID:28775688
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PMID:28771489
A systematic review of genetic mutations in pulmonary arterial hypertension.
PMID:28768485
Versatile ion S5XL sequencer for targeted next generation sequencing of solid tumors in a clinical laboratory.
PMID:28767674
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders.
PMID:28763059
Genetic and functional characterization of disease associations explains comorbidity.
PMID:28740175
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.
PMID:28738127
Findings of a 1303 Korean whole-exome sequencing study.
PMID:28706299
ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy.
PMID:28696921
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
PMID:28687971
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
PMID:28679693
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
PMID:28649662
al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.
PMID:28638141
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.
PMID:28623182
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
PMID:28608266
Literature evidence in open targets - a target validation platform.
PMID:28587637
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
PMID:28569218
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
PMID:28567303
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
PMID:28552198
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
PMID:28546993
Identifying pathogenicity of human variants via paralog-based yeast complementation.
PMID:28542158
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
PMID:28526081
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
PMID:28520890
Using high-resolution variant frequencies to empower clinical genome interpretation.
PMID:28518168
GenProBiS: web server for mapping of sequence variants to protein binding sites.
PMID:28498966
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
PMID:28492532
Mining Exosomal Genes for Pancreatic Cancer Targets.
PMID:28446531
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
PMID:28445943
Gene ORGANizer: linking genes to the organs they affect.
PMID:28444223
Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors.
PMID:28440963
Learning from biomedical linked data to suggest valid pharmacogenes.
PMID:28427468
Next generation mapping reveals novel large genomic rearrangements in prostate cancer.
PMID:28423598
Semantic prioritization of novel causative genomic variants.
PMID:28414800
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
PMID:28404951
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
PMID:28396521
The anatomy of phenotype ontologies: principles, properties and applications.
PMID:28387809
Investigation of mutations in the HBB gene using the 1,000 genomes database.
PMID:28379995
Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors.
PMID:28377632
ABCMdb reloaded: updates on mutations in ATP binding cassette proteins.
PMID:28365738
Development of Bioinformatics Infrastructure for Genomics Research.
PMID:28302555
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level.
PMID:28302551
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data.
PMID:28288115
GT2RDF: Semantic Representation of Genetic Testing Data.
PMID:28269903
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
PMID:28267856
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
PMID:28260531
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
PMID:28243543
Genetics and genomics of dilated cardiomyopathy and systolic heart failure.
PMID:28228157
Big Data Analytics for Genomic Medicine.
PMID:28212287
Predicting disease-related genes using integrated biomedical networks.
PMID:28198675
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols.
PMID:28188534
A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.
PMID:28185569
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
PMID:28182693
The current state of clinical interpretation of sequence variants.
PMID:28157586
Global inference of disease-causing single nucleotide variants from exome sequencing data.
PMID:28155632
Prediction of Protein Interactions by Structural Matching: Prediction of PPI Networks and the Effects of Mutations on PPIs that Combines Sequence and Structural Information.
PMID:28150242
Evolving health care through personal genomics.
PMID:28138143
A comprehensive global genotype-phenotype database for rare diseases.
PMID:28116331
The systematic analysis of coding and long non-coding RNAs in the sub-chronic and chronic stages of spinal cord injury.
PMID:28106101
Genomics pipelines and data integration: challenges and opportunities in the research setting.
PMID:28092471
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
PMID:28082330
A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data.
PMID:28070503
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins.
PMID:28053162
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.
PMID:28028996
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
PMID:28008688
Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.
PMID:28008202
PERCH: A Unified Framework for Disease Gene Prioritization.
PMID:27995669
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
PMID:27993330
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
PMID:27989354
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.
PMID:27955658
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats.
PMID:27939289
DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles.
PMID:27923386
PCAN: phenotype consensus analysis to support disease-gene association.
PMID:27923364
Localized structural frustration for evaluating the impact of sequence variants.
PMID:27915290
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
PMID:27906200
Sequencing-based breast cancer diagnostics as an alternative to routine biomarkers.
PMID:27901097
The Human Phenotype Ontology in 2017.
PMID:27899602
Ensembl 2017.
PMID:27899575
Prioritization of non-coding disease-causing variants and long non-coding RNAs in liver cancer.
PMID:27895760
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
PMID:27884935
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.
PMID:27882922
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
PMID:27848944
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
PMID:27843123
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
PMID:27831900
Clinical Research Informatics for Big Data and Precision Medicine.
PMID:27830253
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.
PMID:27792786
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
PMID:27789569
Genome-wide significance testing of variation from single case exomes.
PMID:27776118
A computational interactome and functional annotation for the human proteome.
PMID:27770567
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
PMID:27760138
Precision medicine in pediatric oncology: Lessons learned and next steps.
PMID:27748023
Germline mutations in Japanese familial pancreatic cancer patients.
PMID:27732944
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.
PMID:27725664
The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.
PMID:27716216
De novo assembly and phasing of a Korean human genome.
PMID:27706134
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
PMID:27696107
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
PMID:27666373
Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients.
PMID:27658390
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
PMID:27648269
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
PMID:27626278
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.
PMID:27626068
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
PMID:27626064
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
PMID:27625337
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
PMID:27621404
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.
PMID:27604408
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
PMID:27578510
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
PMID:27569544
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
PMID:27562378
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.
PMID:27538589
Genetic Misdiagnoses and the Potential for Health Disparities.
PMID:27532831
Clinical Interpretation of Genomic Variations.
PMID:27507302
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.
PMID:27504451
RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.
PMID:27487029
Computational assessment of feature combinations for pathogenic variant prediction.
PMID:27468419
Mitochondrial Diseases: A Clinical and Molecular History.
PMID:27460527
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
PMID:27441996
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.
PMID:27437054
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
PMID:27435932
ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks.
PMID:27428653
User-centered design of multi-gene sequencing panel reports for clinicians.
PMID:27423699
The Qatar genome: a population-specific tool for precision medicine in the Middle East.
PMID:27408750
Multi-OMICs and Genome Editing Perspectives on Liver Cancer Signaling Networks.
PMID:27403431
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
PMID:27399967
Multivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular Diseases.
PMID:27376073
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins.
PMID:27374120
Establishing and validating regulatory regions for variant annotation and expression analysis.
PMID:27357948
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
PMID:27357693
Long-read sequencing and de novo assembly of a Chinese genome.
PMID:27356984
Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions.
PMID:27356097
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
PMID:27353517
Functional annotation of noncoding variants and prioritization of cancer-associated lncRNAs in lung cancer.
PMID:27347129
QuIN: A Web Server for Querying and Visualizing Chromatin Interaction Networks.
PMID:27336171
Complex Selection on Human Polyadenylation Signals Revealed by Polymorphism and Divergence Data.
PMID:27324920
The need to redefine genomic data sharing: A focus on data accessibility.
PMID:27294022
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
PMID:27291587
Comprehensive coverage of cardiovascular disease data in the disease portals at the Rat Genome Database.
PMID:27287925
Medical genomics: The intricate path from genetic variant identification to clinical interpretation.
PMID:27284505
Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.
PMID:27284491
Predicting regulatory variants with composite statistic.
PMID:27273672
The Ensembl Variant Effect Predictor.
PMID:27268795
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
PMID:27267075
Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
PMID:27251404
How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
PMID:27249773
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.
PMID:27242896
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
PMID:27224906
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
PMID:27223485
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.
PMID:27217144
A flexible method for estimating the fraction of fitness influencing mutations from large sequencing data sets.
PMID:27197222
Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine.
PMID:27195526
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.
PMID:27194814
dbCPG: A web resource for cancer predisposition genes.
PMID:27192119
The Chinchilla Research Resource Database: resource for an otolaryngology disease model.
PMID:27173523
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb.
PMID:27158917
High-performance web services for querying gene and variant annotation.
PMID:27154141
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID:27153395
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
PMID:27148569
Capturing phenotypes for precision medicine.
PMID:27148566
A Clinician's perspective on clinical exome sequencing.
PMID:27126233
Text mining for precision medicine: automating disease-mutation relationship extraction from biomedical literature.
PMID:27121612
Whole-Genome Sequencing of a Healthy Aging Cohort.
PMID:27114037
Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine.
PMID:27110816
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
PMID:27104957
Candidate SNP Markers of Gender-Biased Autoimmune Complications of Monogenic Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.
PMID:27092142
Prioritizing functional phosphorylation sites based on multiple feature integration.
PMID:27090940
A whole genome analyses of genetic variants in two Kelantan Malay individuals.
PMID:27090252
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
PMID:27084275
Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.
PMID:27081498
Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing.
PMID:27080396
SAAMBE: Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations.
PMID:27077847
DiMeX: A Text Mining System for Mutation-Disease Association Extraction.
PMID:27073839
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
PMID:27067391
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation.
PMID:27066750
Phenotypic and molecular analyses of primary lateral sclerosis.
PMID:27066542
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
PMID:27065010
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
PMID:27064304
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.
PMID:27058588
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
PMID:27050191
A pan-cancer analysis of prognostic genes.
PMID:27047702
Using ClinVar as a Resource to Support Variant Interpretation.
PMID:27037489
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
PMID:27026620
The Disease Portals, disease-gene annotation and the RGD disease ontology at the Rat Genome Database.
PMID:27009807
Clinical Next Generation Sequencing for Precision Medicine in Cancer.
PMID:27006629
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
PMID:26988438
Systematic identification of phenotypically enriched loci using a patient network of genomic disorders.
PMID:26980139
An extended set of yeast-based functional assays accurately identifies human disease mutations.
PMID:26975778
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.
PMID:26927186
Robust classification of protein variation using structural modelling and large-scale data integration.
PMID:26926108
Human Variome Project Quality Assessment Criteria for Variation Databases.
PMID:26919176
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
PMID:26919060
Featured Article: Genotation: Actionable knowledge for the scientific reader.
PMID:26900164
SRAMP: prediction of mammalian N6-methyladenosine (m6A) sites based on sequence-derived features.
PMID:26896799
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
PMID:26896187
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.
PMID:26884609
Whole genome sequence analysis of BT-474 using complete Genomics' standard and long fragment read technologies.
PMID:26865974
Mutation pattern is an influential factor on functional mutation rates in cancer.
PMID:26865835
Bridging semantics and syntax with graph algorithms-state-of-the-art of extracting biomedical relations.
PMID:26851224
Improving performance of multigene panels for genomic analysis of cancer predisposition.
PMID:26845104
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
PMID:26842889
GIPS: A Software Guide to Sequencing-Based Direct Gene Cloning in Forward Genetics Studies.
PMID:26842621
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
PMID:26838676
The mutation significance cutoff: gene-level thresholds for variant predictions.
PMID:26820543
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
PMID:26809617
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.
PMID:26805890
Quantifying prion disease penetrance using large population control cohorts.
PMID:26791950
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.
PMID:26781712
REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.
PMID:26776189
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.
PMID:26764020
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.
PMID:26746786
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
PMID:26746457
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.
PMID:26733776
In Silico Functional Annotation of Genomic Variation.
PMID:26724722
Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
PMID:26694100
Dintor: functional annotation of genomic and proteomic data.
PMID:26691694
Ensembl 2016.
PMID:26687719
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID:26681312
Taking Bioinformatics to Systems Medicine.
PMID:26677177
The European Bioinformatics Institute in 2016: Data growth and integration.
PMID:26673705
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
PMID:26670335
Reads meet rotamers: structural biology in the age of deep sequencing.
PMID:26658741
Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.
PMID:26658419
RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.
PMID:26635394
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies.
PMID:26615194
Database resources of the National Center for Biotechnology Information.
PMID:26615191
Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.
PMID:26606670
EHR based Genetic Testing Knowledge Base (iGTKB) Development.
PMID:26606281
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS.
PMID:26601959
Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.
PMID:26600436
The UCSC Genome Browser database: 2016 update.
PMID:26590259
A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events.
PMID:26588488
ClinVar: public archive of interpretations of clinically relevant variants.
PMID:26582918
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
PMID:26555599
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.
PMID:26555092
Human genotype-phenotype databases: aims, challenges and opportunities.
PMID:26553330
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
PMID:26547235
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
PMID:26546047
Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.
PMID:26545919
The role of functional data in interpreting the effects of genetic variation.
PMID:26543197
The promise and peril of genomic screening in the general population.
PMID:26540154
Single-Gene Determinants of Epilepsy Comorbidity.
PMID:26525453
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
PMID:26522332
How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter.
PMID:26516624
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.
PMID:26508578
Newborn screening and the era of medical genomics.
PMID:26499764
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
PMID:26495027
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.
PMID:26494363
Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.
PMID:26484312
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
PMID:26484159
DIDA: A curated and annotated digenic diseases database.
PMID:26481352
Pharmacogenomics in the clinic.
PMID:26469045
Building the foundation for genomics in precision medicine.
PMID:26469044
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).
PMID:26442818
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
PMID:26437850
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
PMID:26436112
Clonal dynamics in a single AML case tracked for 9 years reveals the complexity of leukemia progression.
PMID:26424407
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.
PMID:26418054
PUBLIC HEALTH AND EPIDEMIOLOGICAL DATABASES FOR THE ENHANCEMENT OF MEDICAL EDUCATION.
PMID:26392847
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
PMID:26379229
Mitigating false-positive associations in rare disease gene discovery.
PMID:26378430
The UK10K project identifies rare variants in health and disease.
PMID:26367797
DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.
PMID:26363178
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.
PMID:26352407
Can the impact of human genetic variations be predicted?
PMID:26351682
Computational approaches to study the effects of small genomic variations.
PMID:26350246
A Mayan founder mutation is a common cause of deafness in Guatemala.
PMID:26346709
Challenges in exome analysis by LifeScope and its alternative computational pipelines.
PMID:26346699
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
PMID:26338694
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
PMID:26334177
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
PMID:26332594
Cancer Driver Log (CanDL): Catalog of Potentially Actionable Cancer Mutations.
PMID:26320871
Secure Genomic Computation through Site-Wise Encryption.
PMID:26306278
Smoking Gun or Circumstantial Evidence? Comparison of Statistical Learning Methods using Functional Annotations for Prioritizing Risk Variants.
PMID:26300220
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
PMID:26296701
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.
PMID:26289954
Use of semantic workflows to enhance transparency and reproducibility in clinical omics.
PMID:26289940
Harmful somatic amino acid substitutions affect key pathways in cancers.
PMID:26282678
OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.
PMID:26272982
ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification.
PMID:26271043
Use of model organism and disease databases to support matchmaking for human disease gene discovery.
PMID:26269093
Mutations in ARID2 are associated with intellectual disabilities.
PMID:26238514
Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.
PMID:26237491
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
PMID:26221186
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
PMID:26220709
The MI bundle: enabling network and structural biology in genome visualization tools.
PMID:26209801
GESPA: classifying nsSNPs to predict disease association.
PMID:26206375
Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center.
PMID:26205736
Secondary findings and carrier test frequencies in a large multiethnic sample.
PMID:26195989
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
PMID:26192085
BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms.
PMID:26191084
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.
PMID:26175660
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
PMID:26152202
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.
PMID:26147798
An improved understanding of cancer genomics through massively parallel sequencing.
PMID:26146607
Whole Genome Sequencing in Cancer Clinics.
PMID:26137530
Identification of cis-suppression of human disease mutations by comparative genomics.
PMID:26123021
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
PMID:26117142
Disease-associated variants in different categories of disease located in distinct regulatory elements.
PMID:26110593
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.
PMID:26106619
KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST.
PMID:26102504
Computational Pathology: A Path Ahead.
PMID:26098131
Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.
PMID:26047637
Global implementation of genomic medicine: We are not alone.
PMID:26041702
A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data.
PMID:26015273
ClinGen--the Clinical Genome Resource.
PMID:26014595
DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data.
PMID:26013811
The road from next-generation sequencing to personalized medicine.
PMID:26000024
OncoRep: an n-of-1 reporting tool to support genome-guided treatment for breast cancer patients using RNA-sequencing.
PMID:25989980
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
PMID:25985138
DBDiaSNP: An Open-Source Knowledgebase of Genetic Polymorphisms and Resistance Genes Related to Diarrheal Pathogens.
PMID:25978092
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels.
PMID:25954321
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.
PMID:25941534
PGMD: a comprehensive manually curated pharmacogenomic database.
PMID:25939485
PaPI: pseudo amino acid composition to score human protein-coding variants.
PMID:25928477
ClinSeK: a targeted variant characterization framework for clinical sequencing.
PMID:25918555
Widespread macromolecular interaction perturbations in human genetic disorders.
PMID:25910212
Regulation of RAF protein kinases in ERK signalling.
PMID:25907612
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
PMID:25904639
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.
PMID:25898925
WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.
PMID:25890833
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
PMID:25887915
Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.
PMID:25880441
Personalized genomic analyses for cancer mutation discovery and interpretation.
PMID:25877891
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
PMID:25871441
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
PMID:25834947
Difficulties in diagnosing Marfan syndrome using current FBN1 databases.
PMID:25812041
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
PMID:25802882
Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
PMID:25790163
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
PMID:25782689
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
PMID:25714468
Pathway-driven discovery of epilepsy genes.
PMID:25710836
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.
PMID:25706643
Oncotator: cancer variant annotation tool.
PMID:25703262
Genes and podocytes - new insights into mechanisms of podocytopathy.
PMID:25667580
Supporting interoperability of genetic data with LOINC.
PMID:25656513
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
PMID:25647241
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
PMID:25646853
Variant interpretation through Bayesian fusion of frequency and genomic knowledge.
PMID:25632303
Whole genome sequences of 2 octogenarians with sustained cognitive abilities.
PMID:25618617
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.
PMID:25614875
The neXtProt knowledgebase on human proteins: current status.
PMID:25593349
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
PMID:25590979
SeqHBase: a big data toolset for family based sequencing data analysis.
PMID:25587064
An integrative approach to predicting the functional effects of non-coding and coding sequence variation.
PMID:25583119
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
PMID:25569433
Finding our way through phenotypes.
PMID:25562316
Transcriptome alterations of mitochondrial and coagulation function in schizophrenia by cortical sequencing analysis.
PMID:25522158
SG-ADVISER CNV: copy-number variant annotation and interpretation.
PMID:25521334
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
PMID:25514610
Genomic data sharing for translational research and diagnostics.
PMID:25473437
Whole-genome haplotyping approaches and genomic medicine.
PMID:25473435
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
PMID:25466957
The UCSC Genome Browser database: 2015 update.
PMID:25428374
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
PMID:25428349
SuRFing the genomics wave: an R package for prioritising SNPs by functionality.
PMID:25400697
Database resources of the National Center for Biotechnology Information.
PMID:25398906
CMPD: cancer mutant proteome database.
PMID:25398898
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
PMID:25394176
Text mining in cancer gene and pathway prioritization.
PMID:25392685
Whole-genome sequencing of the world's oldest people.
PMID:25390934
Single haplotype assembly of the human genome from a hydatidiform mole.
PMID:25373144
Human cancer databases (review).
PMID:25369839
Genenames.org: the HGNC resources in 2015.
PMID:25361968
Gene: a gene-centered information resource at NCBI.
PMID:25355515
The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease.
PMID:25355511
Integrative data mining highlights candidate genes for monogenic myopathies.
PMID:25353622
VariantDB: a flexible annotation and filtering portal for next generation sequencing data.
PMID:25352915
Nuclear and mitochondrial tRNA-lookalikes in the human genome.
PMID:25339973
Disease variants in genomes of 44 centenarians.
PMID:25333069
Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.
PMID:25288881
Developing genomic knowledge bases and databases to support clinical management: current perspectives.
PMID:25276091
A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care.
PMID:25257203
Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing.
PMID:25246425
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
PMID:25240283
Progress towards the integration of pharmacogenomics in practice.
PMID:25238897
Human germline and pan-cancer variomes and their distinct functional profiles.
PMID:25232094
Organizing knowledge to enable personalization of medicine in cancer.
PMID:25222080
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
PMID:25186178
Available resources and challenges for the clinical annotation of somatic variations.
PMID:25111663
Illumina sequencing of 15 deafness genes using fragmented amplicons.
PMID:25106482
IthaGenes: an interactive database for haemoglobin variations and epidemiology.
PMID:25058394
The diagnostic approach to monogenic very early onset inflammatory bowel disease.
PMID:25058236
Living laboratory: whole-genome sequencing as a learning healthcare enterprise.
PMID:25045831
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
PMID:25008357
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
PMID:24946156
A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.
PMID:24861626
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.
PMID:24803668
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
PMID:24728327
What's that gene (or protein)? Online resources for exploring functions of genes, transcripts, and proteins.
PMID:24723265
MutationTaster2: mutation prediction for the deep-sequencing age.
PMID:24681721
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
PMID:24664454
Free the Data.
PMID:24401097
The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.
PMID:24316579
Database resources of the National Center for Biotechnology Information.
PMID:24259429