HGMD
The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that can be adapted to a broad range of applications including searching for an overview of known mutations associated with a particular disease, interpreting clinical test results or looking for the likely causal mutation in a list of variants.
Description
More detailed information about this field from each metasource.
The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that can be adapted to a broad range of applications including searching for an overview of known mutations associated with a particular disease, interpreting clinical test results or looking for the likely causal mutation in a list of variants.
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
Webpage:
http://www.hgmd.orgWebpage
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
PMID: 24077912
metasource: bio.tools
version: extracted_at: 2021-04-07T11:57:42.678566
Publications
More detailed information about this field from each metasource.
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
PMID: 24077912
metasource: bio.tools
version: extracted_at: 2021-04-07T11:57:42.678566
-
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
PubMed citations: 517.
517 articles citing: The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia. PMID:33477877
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis. PMID:33477601
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report. PMID:33442181
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. PMID:33436942
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes. PMID:33425808
Machine learning based CRISPR gRNA design for therapeutic exon skipping. PMID:33417623
Computational methods for detecting cancer hotspots. PMID:33304455
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. PMID:33208168
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. PMID:33193738
Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children. PMID:33178831
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. PMID:33163362
False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden. PMID:33113957
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. PMID:33106425
Application of BERT to Enable Gene Classification Based on Clinical Evidence. PMID:33083472
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management. PMID:33026560
An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants. PMID:32967157
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India. PMID:32953644
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. PMID:32914088
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. PMID:32847582
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report. PMID:32793304
Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine. PMID:32774791
Cyclin-dependent kinases and rare developmental disorders. PMID:32762766
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension. PMID:32733669
Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3Δ25bp variant. PMID:32656747
Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices. PMID:32644817
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. PMID:32626542
Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning. PMID:32533916
Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization. PMID:32410962
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. PMID:32402084
The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice. PMID:32371886
Correlation between NF1 genotype and imaging phenotype on whole-body MRI: NF1 radiogenomics. PMID:32345730
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. PMID:32337852
CScape-somatic: distinguishing driver and passenger point mutations in the cancer genome. PMID:32282885
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID. PMID:32265911
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease. PMID:32264837
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes. PMID:32225115
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. PMID:32219518
An update on the genetics and pathogenesis of hereditary angioedema. PMID:32181278
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. PMID:32175296
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. PMID:32152366
A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I. PMID:32143638
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout. PMID:32128695
DISNET: a framework for extracting phenotypic disease information from public sources. PMID:32110491
Analysis of protein missense alterations by combining sequence- and structure-based methods. PMID:32096919
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription. PMID:32051525
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family. PMID:31994352
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. PMID:31892343
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. PMID:31888296
Genetic Disorders Associated with Metal Metabolism. PMID:31835360
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases. PMID:31819097
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants. PMID:31799076
PCOSBase: a manually curated database of polycystic ovarian syndrome. PMID:31725861
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. PMID:31692161
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study. PMID:31687525
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
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. PMID:31672125
Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria. PMID:31649158
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. PMID:31646703
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. PMID:31607746
Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk. PMID:31577861
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. PMID:31544778
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. PMID:31534212
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours. PMID:31530827
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics. PMID:31527767
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. PMID:31519934
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
Insights into pathological mutations in insulin-like growth factor I through in silico screening and molecular dynamics simulation. PMID:31456057
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar. PMID:31441606
Predicting the Occurrence of Variants in RAG1 and RAG2. PMID:31388879
Molecular clustering of genes related to the atopic syndrome: Towards a more tailored approach and personalized medicine? PMID:31333817
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. PMID:31327510
Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma. PMID:31289279
Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome. PMID:31216618
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. PMID:31173236
Integrative Analysis of Somatic Mutations in Non-coding Regions Altering RNA Secondary Structures in Cancer Genomes. PMID:31160636
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases. PMID:31106028
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing. PMID:31068157
Genetic Variations and Precision Medicine. PMID:31019429
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. PMID:30970187
NAA10 polyadenylation signal variants cause syndromic microphthalmia. PMID:30842225
Federated discovery and sharing of genomic data using Beacons. PMID:30833764
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. PMID:30781664
A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene. PMID:30755773
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. PMID:30744685
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
Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures. PMID:30680361
Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study. PMID:30659980
Biological relevance of computationally predicted pathogenicity of noncoding variants. PMID:30659175
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. PMID:30627136
Using the drug-protein interactome to identify anti-ageing compounds for humans. PMID:30625143
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita. PMID:30620004
Triple A syndrome: two siblings with a novel mutation in the AAAS gene. PMID:30612286
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. PMID:30565237
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. PMID:30555096
ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning. PMID:30519505
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. PMID:30514708
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. PMID:30507031
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. PMID:30459467
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant. PMID:30419843
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data. PMID:30411536
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature. PMID:30402260
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. PMID:30376835
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. PMID:30352134
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. PMID:30323756
High prevalence of focal and multi-focal somatic genetic variants in the human brain. PMID:30323172
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I". PMID:30286738
Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis. PMID:30272267
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
A sequence-based, deep learning model accurately predicts RNA splicing branchpoints. PMID:30224349
DES-Mutation: System for Exploring Links of Mutations and Diseases. PMID:30190574
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. PMID:30187164
Global landscape of mouse and human cytokine transcriptional regulation. PMID:30184180
An analysis of aging-related genes derived from the Genotype-Tissue Expression project (GTEx). PMID:30155276
Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants. PMID:30139765
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. PMID:30129167
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. PMID:30096381
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. PMID:30093795
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
What's the Function of Connexin 32 in the Peripheral Nervous System? PMID:30042657
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
Computational Approaches to Prioritize Cancer Driver Missense Mutations. PMID:30037003
Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. PMID:29977033
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. PMID:29915382
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. PMID:29908077
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. PMID:29907799
Regulatory variants: from detection to predicting impact. PMID:29893792
Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder. PMID:29888248
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study. PMID:29791287
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. PMID:29776397
At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy-Are We Closer to Effective Treatment for Patients? PMID:29772730
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. PMID:29767664
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. PMID:29764897
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome. PMID:29760939
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. PMID:29749992
Pathway perturbations in signaling networks: Linking genotype to phenotype. PMID:29738884
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment. PMID:29726959
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. PMID:29706639
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Emerging Role of Precision Medicine in Cardiovascular Disease. PMID:29700074
Structural basis for the activation of acid ceramidase. PMID:29692406
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. PMID:29673180
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms. PMID:29664915
Highly parallel genome variant engineering with CRISPR-Cas9. PMID:29632376
DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants. PMID:29617928
Successful treatment of severe combined post- and pre-capillary pulmonary hypertension in a patient with idiopathic restrictive cardiomyopathy. PMID:29575985
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. PMID:29568065
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. PMID:29567674
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer. PMID:29531238
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis. PMID:29504914
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. PMID:29472286
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. PMID:29453417
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PMID:29444099
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation. PMID:29422768
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. PMID:29417091
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. PMID:29386531
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans. PMID:29374778
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital. PMID:29368431
Interactome INSIDER: a structural interactome browser for genomic studies. PMID:29355848
Disorders of metal metabolism. PMID:29354481
Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review. PMID:29321366
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. PMID:29309402
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. PMID:29281699
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. PMID:29276005
A network-based meta-analysis for characterizing the genetic landscape of human aging. PMID:29270911
Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution. PMID:29264563
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. PMID:29261184
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. PMID:29258992
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PMID:29253866
The genetic profile of Leber congenital amaurosis in an Australian cohort. PMID:29178642
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Lysosomal storage diseases. PMID:29152458
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma. PMID:29124493
Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations. PMID:29109099
UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population. PMID:29085579
Human gene essentiality. PMID:29082913
Noncoding Variants Functional Prioritization Methods Based on Predicted Regulatory Factor Binding Sites. PMID:29081688
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. PMID:29074561
Cellular network perturbations by disease-associated variants. PMID:29057377
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. PMID:29053603
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy. PMID:29042326
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. PMID:29036432
Rare germline variants in known melanoma susceptibility genes in familial melanoma. PMID:29036293
Re-evaluating pathogenicity of variants associated with the long QT syndrome. PMID:28988457
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. PMID:28981955
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
FIRE: functional inference of genetic variants that regulate gene expression. PMID:28961785
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. PMID:28944237
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants. PMID:28924536
CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. PMID:28912487
Polygenic determinants in extremes of high-density lipoprotein cholesterol. PMID:28870971
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. PMID:28861920
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. PMID:28840990
Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms. PMID:28819721
Decoding disease-causing mechanisms of missense mutations from supramolecular structures. PMID:28819267
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. PMID:28815929
Functional analysis of Na+/H+ exchanger 9 variants identified in patients with autism and epilepsy. PMID:28815171
Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. PMID:28812016
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. PMID:28761321
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. PMID:28761320
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. PMID:28752769
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity. PMID:28725320
Do sodium channel proteolytic fragments regulate sodium channel expression? PMID:28718687
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. PMID:28717666
Findings of a 1303 Korean whole-exome sequencing study. PMID:28706299
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. PMID:28701297
Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding. PMID:28691125
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. PMID:28679693
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). PMID:28667292
Cysteamine revisited: repair of arginine to cysteine mutations. PMID:28643139
The evolving genetic risk for sporadic ALS. PMID:28642336
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. PMID:28624186
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease. PMID:28617845
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. PMID:28617419
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. PMID:28583108
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. PMID:28567303
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. PMID:28564608
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. PMID:28544272
Identifying pathogenicity of human variants via paralog-based yeast complementation. PMID:28542158
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. PMID:28540636
Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants. PMID:28539581
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. PMID:28521008
Architecture of the human interactome defines protein communities and disease networks. PMID:28514442
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. PMID:28512736
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. PMID:28508593
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. PMID:28496993
Comprehensive strategy for the design of precision drugs and identification of genetic signature behind proneness of the disease-a pharmacogenomic approach. PMID:28470340
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. PMID:28469144
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. PMID:28453649
The genetics of Wilson disease. PMID:28433102
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution. PMID:28391525
Nanodiscs and Solution NMR: preparation, application and challenges. PMID:28373928
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. PMID:28359509
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
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. PMID:28288115
Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides. PMID:28270093
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. PMID:28265589
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. PMID:28261062
Genetics and genomics of dilated cardiomyopathy and systolic heart failure. PMID:28228157
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. PMID:28224773
High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. PMID:28213901
Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory. PMID:28213806
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. PMID:28209709
Next-generation sequencing in familial breast cancer patients from Lebanon. PMID:28202063
Opportunities and challenges of whole-genome and -exome sequencing. PMID:28193154
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. PMID:28180317
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. PMID:28166811
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. PMID:28160152
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
A variant of Brugada syndrome. PMID:28127136
A comprehensive global genotype-phenotype database for rare diseases. PMID:28116331
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. PMID:28106320
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. PMID:28100260
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. PMID:28074886
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. PMID:28061824
TBX5: A Key Regulator of Heart Development. PMID:28057264
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. PMID:28041643
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. PMID:28030592
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency. PMID:28028996
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. PMID:28018435
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. PMID:28018021
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. PMID:28005958
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. PMID:27999115
Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine. PMID:27980697
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. PMID:27966545
Enhanced Visualization of Subtle Outer Retinal Pathology by En Face Optical Coherence Tomography and Correlation with Multi-Modal Imaging. PMID:27959968
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. PMID:27939749
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. PMID:27939289
Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer. PMID:27926510
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. PMID:27924022
Localized structural frustration for evaluating the impact of sequence variants. PMID:27915290
Aspartylglycosaminuria: a review. PMID:27906067
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer. PMID:27844240
Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants. PMID:27840609
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation. PMID:27837218
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. PMID:27798099
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. PMID:27790088
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. PMID:27776117
A computational interactome and functional annotation for the human proteome. PMID:27770567
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. PMID:27761249
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. PMID:27725664
Exome and genome sequencing for inborn errors of immunity. PMID:27720020
Analysis of Arabidopsis Accessions Hypersensitive to a Loss of Chloroplast Translation. PMID:27707889
Improving the in silico assessment of pathogenicity for compensated variants. PMID:27703146
Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease. PMID:27697855
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. PMID:27696107
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. PMID:27683084
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. PMID:27664052
High-throughput discovery of novel developmental phenotypes. PMID:27626380
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides. PMID:27623443
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. PMID:27604408
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. PMID:27600940
Overview of the interactive task in BioCreative V. PMID:27589961
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. PMID:27578510
Explorations to improve the completeness of exome sequencing. PMID:27568008
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. PMID:27564311
VARPRISM: incorporating variant prioritization in tests of de novo mutation association. PMID:27562213
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. PMID:27553520
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. PMID:27549087
One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections. PMID:27548698
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. PMID:27539938
Analysis of protein-coding genetic variation in 60,706 humans. PMID:27535533
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. PMID:27527004
RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord. PMID:27487029
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay. PMID:27486480
Computational assessment of feature combinations for pathogenic variant prediction. PMID:27468419
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. PMID:27456059
Establishing a baseline for literature mining human genetic variants and their relationships to disease cohorts. PMID:27454860
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. PMID:27449771
Prefoldin Promotes Proteasomal Degradation of Cytosolic Proteins with Missense Mutations by Maintaining Substrate Solubility. PMID:27448207
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. PMID:27439461
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. PMID:27435932
Protein function in precision medicine: deep understanding with machine learning. PMID:27423136
Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants. PMID:27406314
Multi-OMICs and Genome Editing Perspectives on Liver Cancer Signaling Networks. PMID:27403431
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. PMID:27401223
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations. PMID:27381090
The expanding phenotypic spectra of kidney diseases: insights from genetic studies. PMID:27374918
Establishing and validating regulatory regions for variant annotation and expression analysis. PMID:27357948
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking. PMID:27355191
Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution. PMID:27324845
PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders. PMID:27310656
The Story of Angioedema: from Quincke to Bradykinin. PMID:27287037
Mining clinical attributes of genomic variants through assisted literature curation in Egas. PMID:27278817
Predicting regulatory variants with composite statistic. PMID:27273672
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. PMID:27272408
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. PMID:27267960
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
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. PMID:27255181
Development and clinical application of an integrative genomic approach to personalized cancer therapy. PMID:27245685
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. PMID:27224999
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). PMID:27224056
Molecular findings from 537 individuals with inherited retinal disease. PMID:27208204
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. PMID:27165008
Democratization of genetic data: connecting government approval of clinical tests with data sharing. PMID:27148568
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. PMID:27147545
Incorporating Non-Coding Annotations into Rare Variant Analysis. PMID:27128317
A Clinician's perspective on clinical exome sequencing. PMID:27126233
Genetics of Hereditary Angioedema Revisited. PMID:27116602
Inherited platelet disorders: toward DNA-based diagnosis. PMID:27095789
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias. PMID:27081508
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation. PMID:27066750
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. PMID:27065010
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. PMID:27026573
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PMID:26990884
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. PMID:26984561
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. PMID:26964878
Mutations in ARSB in MPS VI patients in India. PMID:26937411
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. PMID:26934356
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. PMID:26896187
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. PMID:26878723
Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories. PMID:26845687
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome. PMID:26841357
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. PMID:26837502
The mutation significance cutoff: gene-level thresholds for variant predictions. PMID:26820543
A structured interdomain linker directs self-polymerization of human uromodulin. PMID:26811476
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
A Proteome-wide Fission Yeast Interactome Reveals Network Evolution Principles from Yeasts to Human. PMID:26771498
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. PMID:26752218
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PMID:26741492
Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1. PMID:26734131
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. PMID:26681312
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. PMID:26667666
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features. PMID:26652843
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. PMID:26648831
Sanfilippo syndrome: causes, consequences, and treatments. PMID:26648750
Clinical application of whole-exome sequencing across clinical indications. PMID:26633542
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS. PMID:26601959
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. PMID:26590798
Lynx: a knowledge base and an analytical workbench for integrative medicine. PMID:26590263
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. PMID:26555599
Crowdsourced direct-to-consumer genomic analysis of a family quartet. PMID:26547235
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
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. PMID:26534921
Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations. PMID:26528178
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. PMID:26522332
The human gene damage index as a gene-level approach to prioritizing exome variants. PMID:26483451
DIDA: A curated and annotated digenic diseases database. PMID:26481352
Molecular Genetic Characterization of Thyroid Dyshormonogenesis in a French Bulldog. PMID:26478542
Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges. PMID:26473927
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
Genotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochromocytoma and Comparison of Clinico-Pathological Attributes with Apparently Sporadic Adrenal Pheochromocytoma. PMID:26438242
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1. PMID:26435059
Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. PMID:26431479
Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. PMID:26369774
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
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. PMID:26350204
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. PMID:26345448
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. PMID:26338694
Mapping the Conformation Space of Wildtype and Mutant H-Ras with a Memetic, Cellular, and Multiscale Evolutionary Algorithm. PMID:26325505
Stuve-Wiedemann syndrome with a novel mutation. PMID:26323980
Predicting effects of noncoding variants with deep learning-based sequence model. PMID:26301843
An integrated structure- and system-based framework to identify new targets of metabolites and known drugs. PMID:26286808
Toward a Deeper Understanding of the Genetics of Bipolar Disorder. PMID:26283973
Achieving high-sensitivity for clinical applications using augmented exome sequencing. PMID:26269718
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. PMID:26246501
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. PMID:26242991
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences. PMID:26220699
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning. PMID:26213851
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. PMID:26208472
BayesPI-BAR: a new biophysical model for characterization of regulatory sequence variations. PMID:26202972
Secondary findings and carrier test frequencies in a large multiethnic sample. PMID:26195989
BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms. PMID:26191084
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. PMID:26187847
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link. PMID:26184189
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin. PMID:26152202
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. PMID:26150102
An improved understanding of cancer genomics through massively parallel sequencing. PMID:26146607
RPGR: Its role in photoreceptor physiology, human disease, and future therapies. PMID:26093275
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. PMID:26059845
[Personalized medicine in otology. The role of genetic diagnostics in patients with hearing impairment]. PMID:26059788
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement. PMID:26020417
The road from next-generation sequencing to personalized medicine. PMID:26000024
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? PMID:25994865
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. PMID:25980907
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. PMID:25973577
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. PMID:25954003
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PMID:25942438
PGMD: a comprehensive manually curated pharmacogenomic database. PMID:25939485
Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. PMID:25937569
Functional classification of 15 million SNPs detected from diverse chicken populations. PMID:25926514
Widespread macromolecular interaction perturbations in human genetic disorders. PMID:25910212
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. PMID:25893794
Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder. PMID:25887117
Personalized biochemistry and biophysics. PMID:25856502
Alström Syndrome: Mutation Spectrum of ALMS1. PMID:25846608
Evaluation of exome sequencing variation in undiagnosed ataxias. PMID:25842391
An unusual cause of "pink diaper" in an infant: Answers. PMID:25823988
An unusual cause of pink diapers in an infant: Questions and Answers. PMID:25823987
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). PMID:25820994
Decoding mechanisms by which silent codon changes influence protein biogenesis and function. PMID:25817479
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
VaRank: a simple and powerful tool for ranking genetic variants. PMID:25780760
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). PMID:25759012
Computational study of missense mutations in phenylalanine hydroxylase. PMID:25750018
The Human Genome Project, and recent advances in personalized genomics. PMID:25733939
A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy. PMID:25706306
Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. PMID:25687726
Creation of targeted genomic deletions using TALEN or CRISPR/Cas nuclease pairs in one-cell mouse embryos. PMID:25685662
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. PMID:25675413
Genes and podocytes - new insights into mechanisms of podocytopathy. PMID:25667580
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. PMID:25616960
Evolutionary constraint and disease associations of post-translational modification sites in human genomes. PMID:25611800
Big data and clinicians: a review on the state of the science. PMID:25600256
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. PMID:25593501
An integrative approach to predicting the functional effects of non-coding and coding sequence variation. PMID:25583119
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. PMID:25548800
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis. PMID:25504735
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. PMID:25493570
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. PMID:25472526
Structure of the F-actin-tropomyosin complex. PMID:25470062
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. PMID:25466957
FLAGS, frequently mutated genes in public exomes. PMID:25466818
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. PMID:25452324
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. PMID:25433810
Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA. PMID:25422459
A proteome-scale map of the human interactome network. PMID:25416956
Clinical exome sequencing for genetic identification of rare Mendelian disorders. PMID:25326637
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder. PMID:25324542
EpilepsyGene: a genetic resource for genes and mutations related to epilepsy. PMID:25324312
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. PMID:25311508
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A. PMID:25287660
Organizing knowledge to enable personalization of medicine in cancer. PMID:25222080
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). PMID:25216246
A probabilistic model to predict clinical phenotypic traits from genome sequencing. PMID:25188385
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. PMID:25186178
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. PMID:25156245
Available resources and challenges for the clinical annotation of somatic variations. PMID:25111663
Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. PMID:25111227
Phen-Gen: combining phenotype and genotype to analyze rare disorders. PMID:25086502
GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files. PMID:25055742
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. PMID:25018621
Impairment of translation in neurons as a putative causative factor for autism. PMID:25011470
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. PMID:24988226
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. PMID:24973560
Returning individual research results for genome sequences of pancreatic cancer. PMID:24963353
Copy number variants are a common cause of non-syndromic hearing loss. PMID:24963352
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. PMID:24932600
Genetic interaction analysis of point mutations enables interrogation of gene function at a residue-level resolution: exploring the applications of high-resolution genetic interaction mapping of point mutations. PMID:24842270
Grand challenges in cellular biochemistry: the "next-gen" biochemistry. PMID:24809045
A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination. PMID:24682784
MutationTaster2: mutation prediction for the deep-sequencing age. PMID:24681721
A framework for organizing cancer-related variations from existing databases, publications and NGS data using a High-performance Integrated Virtual Environment (HIVE). PMID:24667251
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. PMID:24599843
Implementation of biomarker-driven cancer therapy: existing tools and remaining gaps. PMID:24534473
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. PMID:24451234
Integrated analysis of germline and somatic variants in ovarian cancer. PMID:24448499
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. PMID:24436305
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. PMID:24430573
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. PMID:24356988
NECTAR: a database of codon-centric missense variant annotations. PMID:24297257
Lynx: a database and knowledge extraction engine for integrative medicine. PMID:24270788
Molecular genetic epidemiology of human diseases: from patterns to predictions. PMID:24241280
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genetic variation
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version: extracted_at: 2021-04-07T11:57:42.678566
human biology
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version: extracted_at: 2021-04-07T11:57:42.678566
pathology
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version: extracted_at: 2021-04-07T11:57:42.678566
data integration and warehousing
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version: extracted_at: 2021-04-07T11:57:42.678566
rare diseases
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More detailed information about this field from each metasource.
genetic variation
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
human biology
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
pathology
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
data integration and warehousing
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
rare diseases
metasource: bio.toolsversion: extracted_at: 2021-04-07T11:57:42.678566
genetic variation human pathology data integration and warehousing rare diseases