dbNSFP
Database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) and splice-site variants (ssSNVs) in the human genome. It also facilitates the steps of filtering and prioritizing SNVs from a large list of SNVs discovered in an exome-sequencing study.
Description
More detailed information about this field from each metasource.
Database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) and splice-site variants (ssSNVs) in the human genome. It also facilitates the steps of filtering and prioritizing SNVs from a large list of SNVs discovered in an exome-sequencing study.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
Webpage:
http://sites.google.com/site/jpopgen/dbNSFPWebpage
More detailed information about this field from each metasource.
http://sites.google.com/site/jpopgen/dbNSFP
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
Licence:
Name: UnlicenseLicence name
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
PMID: 26555599
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
http://dx.doi.org/10.1002/humu.21517
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
http://dx.doi.org/10.1002/humu.22376
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
Publications
More detailed information about this field from each metasource.
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
PMID: 26555599
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
http://dx.doi.org/10.1002/humu.21517
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
http://dx.doi.org/10.1002/humu.22376
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
PubMed citations: 413.
413 articles citing: dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics. PMID:35346197
Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms. PMID:35299232
Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing. PMID:35280256
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. PMID:35243414
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. PMID:35216679
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. PMID:35177841
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. PMID:35163215
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer. PMID:35158942
The properties of human disease mutations at protein interfaces. PMID:35120134
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. PMID:35115730
Comparative assessment of genes driving cancer and somatic evolution in non-cancer tissues: an update of the Network of Cancer Genes (NCG) resource. PMID:35078504
Rapid idiosyncratic mechanisms of clinical resistance to KRAS G12C inhibition. PMID:34990404
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. PMID:34946863
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. PMID:34932938
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes. PMID:34905135
Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing. PMID:34886911
Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey. PMID:34850337
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model. PMID:34830235
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. PMID:34815391
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability. PMID:34768775
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations. PMID:34721006
Investigating single amino acid substitutions in PIM1 kinase: A structural genomics approach. PMID:34679086
Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas. PMID:34638295
Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review. PMID:34625039
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. PMID:34621053
Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes. PMID:34604130
Dissecting Genomic Determinants of Positive Selection with an Evolution-Guided Regression Model. PMID:34597406
Regional TMPRSS2 V197M Allele Frequencies Are Correlated with COVID-19 Case Fatality Rates. PMID:34588322
KCNQ variants and pain modulation: a missense variant in Kv7.3 contributes to pain resilience. PMID:34557669
My Cancer Genome: Coevolution of Precision Oncology and a Molecular Oncology Knowledgebase. PMID:34554823
Improved pathogenicity prediction for rare human missense variants. PMID:34551312
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations. PMID:34498116
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas. PMID:34478472
Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1. PMID:34476477
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. PMID:34465723
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. PMID:34440290
X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy. PMID:34396109
Developmental and temporal characteristics of clonal sperm mosaicism. PMID:34388390
Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. PMID:34357098
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
The role of CDHR3 in susceptibility to otitis media. PMID:34322716
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. PMID:34319147
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:34302047
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report. PMID:34295493
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. PMID:34291353
Interpretable prioritization of splice variants in diagnostic next-generation sequencing. PMID:34289339
TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. PMID:34283811
Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis. PMID:34282768
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1. PMID:34277511
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. PMID:34258273
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy. PMID:34235642
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease. PMID:34208743
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. PMID:34199759
The PRKAR1B p.R115K Variant is Associated with Lipoprotein Profile in African American Youth with Metabolic Challenges. PMID:34195525
Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis. PMID:34194442
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene. PMID:34170635
Assessment of the gene mosaicism burden in blood and its implications for immune disorders. PMID:34155260
High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing. PMID:34149797
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder. PMID:34145229
Human GPR17 missense variants identified in metabolic disease patients have distinct downstream signaling profiles. PMID:34144038
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. PMID:34135477
Genome sequencing unveils a regulatory landscape of platelet reactivity. PMID:34131117
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. PMID:34125151
Case of Resistance to Thyroid Hormones With a Relatively Rare Mutation in Thyroid Hormones Receptor. PMID:34113521
Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning. PMID:34073420
Large-scale identification of protein histidine methylation in human cells. PMID:34046594
driveR: a novel method for prioritizing cancer driver genes using somatic genomics data. PMID:34030627
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension. PMID:33996849
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins. PMID:33953634
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer. PMID:33916261
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. PMID:33879837
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency. PMID:33863366
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction. PMID:33859969
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants. PMID:33851121
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. PMID:33846329
Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation. PMID:33827469
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. PMID:33822938
Converting single nucleotide variants between genome builds: from cautionary tale to solution. PMID:33822888
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression. PMID:33804940
Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines. PMID:33803939
Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report. PMID:33803538
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. PMID:33802230
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis. PMID:33800365
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations. PMID:33796225
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum. PMID:33790624
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations. PMID:33767731
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm. PMID:33761318
A Drosophila platform identifies a novel, personalized therapy for a patient with adenoid cystic carcinoma. PMID:33733072
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer. PMID:33732635
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature. PMID:33704917
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer. PMID:33692755
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. PMID:33679884
The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome. PMID:33676930
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. PMID:33673279
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. PMID:33672345
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. PMID:33663443
Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome. PMID:33633790
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. PMID:33620406
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. PMID:33618777
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas. PMID:33617468
From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration. PMID:33599394
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. PMID:33580225
Family-specific analysis of variant pathogenicity prediction tools. PMID:33575576
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. PMID:33574475
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. PMID:33574263
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
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. PMID:33543123
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies. PMID:33504652
MVP predicts the pathogenicity of missense variants by deep learning. PMID:33479230
A rare large duplication of MLH1 identified in Lynch syndrome. PMID:33468175
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Current cancer driver variant predictors learn to recognize driver genes instead of functional variants. PMID:33441128
Genome diversity in Ukraine. PMID:33438729
Parkinson's Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers. PMID:33414808
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish. PMID:33382518
A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation. PMID:33380594
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations. PMID:33312764
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype. PMID:33301229
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations. PMID:33277594
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing. PMID:33269076
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. PMID:33261662
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. PMID:33257846
PTMsnp: A Web Server for the Identification of Driver Mutations That Affect Protein Post-translational Modification. PMID:33240890
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. PMID:33232675
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations. PMID:33226070
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. PMID:33219223
Molecular Profiling of Exceptional Responders to Cancer Therapy. PMID:33210795
Population Prevalence of Deleterious SGCE Variants. PMID:33200041
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. PMID:33193738
Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease. PMID:33192475
MobiDetails: online DNA variants interpretation. PMID:33161418
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. PMID:33114113
IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. PMID:33095885
Prediction of driver variants in the cancer genome via machine learning methodologies. PMID:33094325
Reference exome data for a Northern Brazilian population. PMID:33087711
Ultrafast and scalable variant annotation and prioritization with big functional genomics data. PMID:33060171
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. PMID:33051659
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. PMID:33046911
Cancer Predisposition Genes in Cancer-Free Families. PMID:32992489
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines. PMID:32987860
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients. PMID:32970752
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks. PMID:32960507
Candidate variants in TUB are associated with familial tremor. PMID:32956375
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. PMID:32943487
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. PMID:32938213
Annotation of Human Exome Gene Variants with Consensus Pathogenicity. PMID:32938008
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. PMID:32934261
Multi-omic studies on missense PLG variants in families with otitis media. PMID:32929111
Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. PMID:32924180
Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome. PMID:32923857
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations. PMID:32912208
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. PMID:32911714
Integrated analysis of whole genome and transcriptome sequencing in a young patient with gastric cancer provides insights for precision therapy. PMID:32863928
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. PMID:32860008
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. PMID:32839606
Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry. PMID:32832836
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. PMID:32822602
Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease. PMID:32794657
Modeling the Diversity of Epithelial Ovarian Cancer through Ten Novel Well Characterized Cell Lines Covering Multiple Subtypes of the Disease. PMID:32784519
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery. PMID:32766464
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. PMID:32761968
IDRMutPred: predicting disease-associated germline nonsynonymous single nucleotide variants (nsSNVs) in intrinsically disordered regions. PMID:32756939
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. PMID:32743991
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. PMID:32709676
Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2. PMID:32690544
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. PMID:32668698
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations. PMID:32627955
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). PMID:32612575
Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer. PMID:32601264
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. PMID:32585897
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:32577690
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. PMID:32562050
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. PMID:32561755
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PMID:32502225
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer. PMID:32492864
Strategies for Functional Interrogation of Big Cancer Data Using Drosophila Cancer Models. PMID:32466549
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. PMID:32438681
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing. PMID:32429412
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. PMID:32427313
High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients. PMID:32416097
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden. PMID:32415133
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type. PMID:32413045
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. PMID:32412666
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML. PMID:32377563
Reference exome data for Australian Aboriginal populations to support health-based research. PMID:32350262
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. PMID:32349777
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping. PMID:32284880
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy. PMID:32256442
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
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. PMID:32227657
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. PMID:32211398
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. PMID:32160374
Rhapsody: predicting the pathogenicity of human missense variants. PMID:32101277
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. PMID:32083401
Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk. PMID:32054687
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease. PMID:32049305
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting. PMID:32019565
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients. PMID:32019516
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. PMID:31999394
White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer. PMID:31988276
Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations. PMID:31985533
A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN. PMID:31967040
Molecular profiling for precision cancer therapies. PMID:31937368
Peptide-TLR-7/8a conjugate vaccines chemically programmed for nanoparticle self-assembly enhance CD8 T-cell immunity to tumor antigens. PMID:31932728
Genomic profiling of multiple breast cancer reveals inter-lesional heterogeneity. PMID:31929516
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. PMID:31927531
Identification of altered biological processes in heterogeneous RNA-sequencing data by discretization of expression profiles. PMID:31889184
Genome analysis and knowledge-driven variant interpretation with TGex. PMID:31888639
Application of Computational Biology and Artificial Intelligence Technologies in Cancer Precision Drug Discovery. PMID:31886259
A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity. PMID:31883794
Genetic characteristics of non-familial epilepsy. PMID:31875159
Identification of pathogenic variant enriched regions across genes and gene families. PMID:31871067
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. PMID:31870554
Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies. PMID:31857740
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. PMID:31836668
Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases. PMID:31824661
Characterization of novel genetic alterations in salivary gland secretory carcinoma. PMID:31822803
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. PMID:31779641
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. PMID:31756055
Personalised analytics for rare disease diagnostics. PMID:31754101
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. PMID:31700171
CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. PMID:31691819
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. PMID:31685998
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
The Many Faces of Gene Regulation in Cancer: A Computational Oncogenomics Outlook. PMID:31671657
Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity. PMID:31671528
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report. PMID:31655555
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. PMID:31646703
Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways. PMID:31614935
QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes. PMID:31598699
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. PMID:31595699
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair. PMID:31569370
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification. PMID:31484976
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. PMID:31482689
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. PMID:31475473
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. PMID:31475037
Application of ACMG criteria to classify variants in the human gene mutation database. PMID:31451714
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. PMID:31443733
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes. PMID:31428484
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants. PMID:31336956
Patient-specific cancer genes contribute to recurrently perturbed pathways and establish therapeutic vulnerabilities in esophageal adenocarcinoma. PMID:31308377
Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease. PMID:31303019
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. PMID:31298765
Prediction of disease-associated mutations in the transmembrane regions of proteins with known 3D structure. PMID:31291347
Quantifying the Potential for Future Gene Therapy to Lower Lifetime Risk of Polygenic Late-Onset Diseases. PMID:31288412
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public. PMID:31280677
"Somatic" and "pathogenic" - is the classification strategy applicable in times of large-scale sequencing? PMID:31273095
Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan. PMID:31269435
Integration of Random Forest Classifiers and Deep Convolutional Neural Networks for Classification and Biomolecular Modeling of Cancer Driver Mutations. PMID:31245384
Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PMID:31242253
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity. PMID:31228295
GenPipes: an open-source framework for distributed and scalable genomic analyses. PMID:31185495
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. PMID:31180157
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. PMID:31175295
The Sustained Induction of c-MYC Drives Nab-Paclitaxel Resistance in Primary Pancreatic Ductal Carcinoma Cells. PMID:31164413
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. PMID:31147699
Predicting pathogenicity of missense variants with weakly supervised regression. PMID:31144781
A personalized platform identifies trametinib plus zoledronate for a patient with KRAS-mutant metastatic colorectal cancer. PMID:31131321
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management. PMID:31127704
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. PMID:31118516
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
Finding driver mutations in cancer: Elucidating the role of background mutational processes. PMID:31034466
Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses. PMID:31025543
Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. PMID:31018240
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). PMID:31015822
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. PMID:31001316
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks. PMID:31000419
Removal of alleles by genome editing (RAGE) against deleterious load. PMID:30995904
Functional characterization of 3D protein structures informed by human genetic diversity. PMID:30988206
Crystal structure of the SH3 domain of human Lyn non-receptor tyrosine kinase. PMID:30969999
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. PMID:30961548
The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes. PMID:30957210
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia. PMID:30911941
c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype. PMID:30881084
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. PMID:30872814
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. PMID:30838450
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. PMID:30791524
Molecular modeling of LDLR aids interpretation of genomic variants. PMID:30778614
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. PMID:30773278
Fibroblast growth factor receptor signaling in pediatric B-cell precursor acute lymphoblastic leukemia. PMID:30755670
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
New insights into the pathogenicity of non-synonymous variants through multi-level analysis. PMID:30733553
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. PMID:30704477
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. PMID:30702160
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. PMID:30696458
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma. PMID:30680959
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. PMID:30647093
Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. PMID:30633106
Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positions. PMID:30535108
The Genetic Landscape of Diamond-Blackfan Anemia. PMID:30503522
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. PMID:30497360
GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. PMID:30477545
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. PMID:30450799
Ensembl 2019. PMID:30407521
VarSome: the human genomic variant search engine. PMID:30376034
CADD: predicting the deleteriousness of variants throughout the human genome. PMID:30371827
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture. PMID:30274822
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
SMART Cancer Navigator: A Framework for Implementing ASCO Workshop Recommendations to Enable Precision Cancer Medicine. PMID:30238071
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? PMID:30233647
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. PMID:30167849
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. PMID:30144815
Novel Variants Identified in Multiple Sclerosis Patients From Southern China. PMID:30140248
Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size. PMID:30126146
The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees. PMID:30113565
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties. PMID:30090112
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family. PMID:30072699
Performance evaluation of pathogenicity-computation methods for missense variants. PMID:30060008
IRF2BPL Is Associated with Neurological Phenotypes. PMID:30057031
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. PMID:30008175
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. PMID:29988083
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. PMID:29967526
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. PMID:29955957
Targeted resequencing of a locus for heparin-induced thrombocytopenia on chromosome 5 identified in a genome-wide association study. PMID:29934777
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology. PMID:29930198
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. PMID:29922827
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? PMID:29891883
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. PMID:29884841
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Metastasis of Benign Leiomyomas Outside the Uterus. PMID:29796157
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. PMID:29784605
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Whole-exome sequencing for variant discovery in blepharospasm. PMID:29770609
What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies. PMID:29677173
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. PMID:29668857
High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations. PMID:29556019
Rare variants in drug target genes contributing to complex diseases, phenome-wide. PMID:29545597
Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies. PMID:29538399
Systematic Functional Annotation of Somatic Mutations in Cancer. PMID:29533785
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis. PMID:29510755
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. PMID:29464339
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. PMID:29455155
Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development. PMID:29445242
A phenotype centric benchmark of variant prioritisation tools. PMID:29423277
Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration. PMID:29390967
IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome. PMID:29390075
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. PMID:29373637
A recurrent de novo missense mutation in UBTF causes developmental neuroregression. PMID:29300972
Principles and methods of in-silico prioritization of non-coding regulatory variants. PMID:29288389
Bioinformatics for precision oncology. PMID:29272324
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. PMID:29262854
Benchmarking distributed data warehouse solutions for storing genomic variant information. PMID:29220442
Lymph Node Metastases in Colon Cancer Are Polyclonal. PMID:29203589
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29179779
Role of WNT10A in failure of tooth development in humans and zebrafish. PMID:29178643
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans. PMID:29162626
Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. PMID:29123202
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. PMID:29099798
m6AVar: a database of functional variants involved in m6A modification. PMID:29036329
Re-evaluating pathogenicity of variants associated with the long QT syndrome. PMID:28988457
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia. PMID:28972594
Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes. PMID:28945216
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. PMID:28924153
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases. PMID:28914264
Identification of ASAH1 as a susceptibility gene for familial keloids. PMID:28905881
Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. PMID:28854705
Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations. PMID:28811629
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). PMID:28726266
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. PMID:28701297
SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data. PMID:28669402
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. PMID:28512736
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins. PMID:28498993
mTCTScan: a comprehensive platform for annotation and prioritization of mutations affecting drug sensitivity in cancers. PMID:28482068
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome. PMID:28482049
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. PMID:28349240
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. PMID:28302551
Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort. PMID:28302137
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. PMID:28300864
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. PMID:28267856
Genetics and genomics of dilated cardiomyopathy and systolic heart failure. PMID:28228157
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
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. PMID:28180317
Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites. PMID:28158543
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. PMID:28127548
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. PMID:28115622
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. PMID:28111427
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. PMID:28069795
GTB - an online genome tolerance browser. PMID:28061747
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
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. PMID:27848077
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. PMID:27817865
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. PMID:27749612
Improving the in silico assessment of pathogenicity for compensated variants. PMID:27703146
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. PMID:27662471
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. PMID:27624628
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures. PMID:27565432
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. PMID:27551681
Pedigree based DNA sequencing pipeline for germline genomes of cancer families. PMID:27508007
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. PMID:27455347
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions. PMID:27313609
StructMAn: annotation of single-nucleotide polymorphisms in the structural context. PMID:27150811
Incorporating Non-Coding Annotations into Rare Variant Analysis. PMID:27128317
A novel mutation in CELSR1 is associated with hereditary lymphedema. PMID:26855770
UCSC Data Integrator and Variant Annotation Integrator. PMID:26740527 - http://dx.doi.org/10.1002/humu.21517
- http://dx.doi.org/10.1002/humu.22376
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human genetics
metasource: bio.tools
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data acquisition
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version: extracted_at: 2022-11-04T11:30:57.636780
function analysis
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genetic variation
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version: extracted_at: 2022-11-04T11:30:57.636780
rare diseases
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version: extracted_at: 2022-11-04T11:30:57.636780
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More detailed information about this field from each metasource.
human genetics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
data acquisition
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
function analysis
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
genetic variation
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rare diseases
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human genetics data acquisition function analysis genetic variation rare diseases
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