R32D29 last accessed: 2022-11-04

ExAC browser
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

ExAC
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

exac
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

Other names: ExAC Browser, ExAC browser, ExAC, exac

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The ExAC Browser spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. All of the raw data from these projects have been reprocessed through the same pipeline, and jointly variant-called to increase consistency across projects.

Webpage:

http://exac.broadinstitute.org/

Licence:

Name: Open Data Commons Open Database License (ODC ODbL)
URL: http://opendatacommons.org/licenses/odbl/1.0/

Publications:

Publications
More detailed information about this field from each metasource.

The ExAC browser: displaying reference data information from over 60 000 exomes
PMID: 27899611
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

http://dx.doi.org/10.1093/nar/1968
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

The ExAC browser: displaying reference data information from over 60 000 exomes PubMed citations: 247.

247 articles citing: The ExAC browser: displaying reference data information from over 60 000 exomes

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases. PMID:35891796
Follistatin-like 1 and its paralogs in heart development and cardiovascular disease. PMID:35867287
Discovering Innate Driver Variants for Risk Assessment of Early Colorectal Cancer Metastasis. PMID:35795065
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population. PMID:35778737
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma. PMID:35768438
Interpreting protein variant effects with computational predictors and deep mutational scanning. PMID:35736673
Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing. PMID:35734438
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
Single Circulating-Tumor-Cell-Targeted Sequencing to Identify Somatic Variants in Liquid Biopsies in Non-Small-Cell Lung Cancer Patients. PMID:35723337
Postoperative hyperprogression disease of pancreatic ductal adenocarcinoma after curative resection: a retrospective cohort study. PMID:35698045
Characteristics of Genomic Alterations in Pericardial Effusion of Advanced Non-small Cell Lung Cancer. PMID:35646096
Early Assessment of Chemotherapy Response in Advanced Non-Small Cell Lung Cancer with Circulating Tumor DNA. PMID:35626082
Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene. PMID:35620275
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PMID:35613087
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development. PMID:35585091
Pathway-Based Analysis Revealed the Role of Keap1-Nrf2 Pathway and PI3K-Akt Pathway in Chinese Esophageal Squamous Cell Carcinoma Patients With Definitive Chemoradiotherapy. PMID:35548450
Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population. PMID:35524249
Genome interpretation using in silico predictors of variant impact. PMID:35488922
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift. PMID:35456375
Disease Modeling of Rare Neurological Disorders in Zebrafish. PMID:35409306
OGDHL Variant rs2293239: A Potential Genetic Driver of Chinese Familial Depressive Disorder. PMID:35370858
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. PMID:35350997
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene. PMID:35316504
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes. PMID:35292633
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome. PMID:35207686
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. PMID:35159210
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. PMID:35146449
Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. PMID:35121878
The association between genomic variations and histological grade in hepatocellular carcinoma. PMID:35117602
DNA Repair Pathways and Their Association With Lethal Prostate Cancer in African American and European American Men. PMID:35079693
The estimates of effective population size based on linkage disequilibrium are virtually unaffected by natural selection. PMID:35077457
The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar. PMID:35026759
The genetic architecture of pediatric cardiomyopathy. PMID:35026164
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. PMID:35024939
Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients. PMID:34997195
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9. PMID:34943163
Identification and in vitro validation of neoantigens for immune activation against high-risk pediatric leukemia cells. PMID:34844524
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort. PMID:34839264
Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon. PMID:34798989
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis. PMID:34711244
Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors. PMID:34680263
Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD). PMID:34680056
Comprehensive landscape and interference of clonal haematopoiesis mutations for liquid biopsy: A Chinese pan-cancer cohort. PMID:34658138
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. PMID:34621706
Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity. PMID:34573415
Real-World Evaluation of Universal Germline Screening for Cancer Treatment-Relevant Pharmacogenes. PMID:34572750
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients. PMID:34545149
CNV Analysis of the Correlation between Preoperative Lymph Node Metastasis and Prognosis of Early Tongue Cancer. PMID:34539886
Comprehensively Exploring the Mutational Landscape and Patterns of Genomic Evolution in Hypermutated Cancers. PMID:34503126
Packpred: Predicting the Functional Effect of Missense Mutations. PMID:34490344
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas. PMID:34478472
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules. PMID:34322384
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers. PMID:34285288
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
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. PMID:34270679
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. PMID:34263907
CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer. PMID:34259866
Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma. PMID:34255132
DIVIS: Integrated and Customizable Pipeline for Cancer Genome Sequencing Analysis and Interpretation. PMID:34168993
GENCODE Pseudogenes. PMID:34165709
Whole-Exome Sequencing Analysis of Oral Squamous Cell Carcinoma Delineated by Tobacco Usage Habits. PMID:34136393
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. PMID:34108988
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A. PMID:34012382
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease. PMID:33981200
Tumor Mutation Burden and Differentially Mutated Genes Among Immune Phenotypes in Patients with Lung Adenocarcinoma. PMID:33976553
Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia. PMID:33973092
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. PMID:33962631
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity. PMID:33925997
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. PMID:33910511
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Genetic basis of hypercholesterolemia in adults. PMID:33854068
Massive parallel sequencing in a family with rectal cancer. PMID:33827643
The C2 domain of calpain 5 contributes to enzyme activation and membrane localization. PMID:33811937
Comparison of Structural and Short Variants Detected by Linked-Read and Whole-Exome Sequencing in Multiple Myeloma. PMID:33802025
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer. PMID:33732635
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. PMID:33672345
TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan. PMID:33643703
Impact of between-tissue differences on pan-cancer predictions of drug sensitivity. PMID:33630864
Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma. PMID:33622343
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. PMID:33568816
Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. PMID:33535033
Mutational burden and chromosomal aneuploidy synergistically predict survival from radiotherapy in non-small cell lung cancer. PMID:33514859
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. PMID:33510257
Genomic Mutations of Primary and Metastatic Lung Adenocarcinoma in Chinese Patients. PMID:33488709
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus. PMID:33459505
Human whole genome sequencing in South Africa. PMID:33436733
Genomic profile of metastatic breast cancer patient-derived xenografts established using percutaneous biopsy. PMID:33407601
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. PMID:33345454
Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease. PMID:33260921
Novel mutations in breast cancer patients from southwestern Colombia. PMID:33231602
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. PMID:33205915
The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome. PMID:33182400
Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease. PMID:33130253
Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes. PMID:33104793
IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. PMID:33095885
Extracellular microRNA 3' end modification across diverse body fluids. PMID:33092484
Reference exome data for a Northern Brazilian population. PMID:33087711
Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants. PMID:33025817
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. PMID:32971818
ZMAT2 in Humans and Other Primates: A Highly Conserved and Understudied Gene. PMID:32952394
The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans. PMID:32929667
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations. PMID:32912208
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Integrated analysis of whole genome and transcriptome sequencing in a young patient with gastric cancer provides insights for precision therapy. PMID:32863928
The domino effect triggered by the tethered ligand of the protease activated receptors. PMID:32853981
ACE2 coding variants in different populations and their potential impact on SARS-CoV-2 binding affinity. PMID:32844124
A novel homozygous KY variant causing a complex neurological disorder. PMID:32818658
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. PMID:32788587
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. PMID:32782288
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data. PMID:32763188
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report. PMID:32746785
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. PMID:32697043
Analysis of tumor mutational burden: correlation of five large gene panels with whole exome sequencing. PMID:32647293
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature. PMID:32590954
Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants. PMID:32574725
Clonal hematopoiesis is associated with adverse outcomes in multiple myeloma patients undergoing transplant. PMID:32533060
Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability. PMID:32529193
Properties of structural variants and short tandem repeats associated with gene expression and complex traits. PMID:32522982
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania. PMID:32503527
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. PMID:32499722
A structural variation reference for medical and population genetics. PMID:32461652
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. PMID:32439764
High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients. PMID:32416097
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction. PMID:32350270
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
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype. PMID:32344861
MI-MAAP: marker informativeness for multi-ancestry admixed populations. PMID:32245404
Revisiting the Population Genetics of Human Height. PMID:32232182
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes. PMID:32203388
Allele-specific genome targeting in the development of precision medicine. PMID:32194858
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics. PMID:32185475
Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing. PMID:32128068
Establishment of a novel human cell line retaining the characteristics of the original pancreatic adenocarcinoma, and evaluation of MEK as a therapeutic target. PMID:32124956
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. PMID:32084271
Determining the incidence of rare diseases. PMID:32056000
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. PMID:32015465
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining. PMID:31856831
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease. PMID:31824610
Concepts Driving Pharmacogenomics Implementation Into Everyday Healthcare. PMID:31802928
A bird's-eye view of Italian genomic variation through whole-genome sequencing. PMID:31784700
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. PMID:31760949
Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark. PMID:31729605
Knockout of the non-essential gene SUGCT creates diet-linked, age-related microbiome disbalance with a diabetes-like metabolic syndrome phenotype. PMID:31722069
Clinical utility of genomic sequencing. PMID:31693580
Serial ultra-deep sequencing of circulating tumor DNA reveals the clonal evolution in non-small cell lung cancer patients treated with anti-PD1 immunotherapy. PMID:31692284
Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico. PMID:31649539
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. PMID:31642496
Filaments and phenotypes: cellular roles and orphan effects associated with mutations in cytoplasmic intermediate filament proteins. PMID:31602295
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. PMID:31562665
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. PMID:31504246
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset. PMID:31398342
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact. PMID:31398194
Artificial Intelligence for Drug Toxicity and Safety. PMID:31383376
Uncovering missed indels by leveraging unmapped reads. PMID:31366961
VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases. PMID:31317185
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease. PMID:31308240
The insulin-like growth factor 2 gene in mammals: Organizational complexity within a conserved locus. PMID:31251794
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein. PMID:31210424
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. PMID:31171447
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. PMID:31116477
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. PMID:31079270
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants. PMID:31075275
Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. PMID:31058951
DNAscan: personal computer compatible NGS analysis, annotation and visualisation. PMID:31029080
Next generation sequencing analysis of patients with familial cervical artery dissection. PMID:31008308
Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated? PMID:30995449
G1 is the major APOL1 risk allele for hypertension-attributed nephropathy in Central Africa. PMID:30976395
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. PMID:30954460
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. PMID:30915099
Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts. PMID:30824863
Detecting the Presence of an Individual in Phenotypic Summary Data. PMID:30815118
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
Variation in the repulsive guidance molecule family in human populations. PMID:30746893
Genetic and metabolic predictors of hepatic fat content in a cohort of Italian children with obesity. PMID:30710115
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population. PMID:30633749
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. PMID:30604053
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PMID:30586411
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. PMID:30578417
Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing. PMID:30559311
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder. PMID:30545856
Polygenic disruption of retinoid signalling in schizophrenia and a severe cognitive deficit subtype. PMID:30532020
Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics. PMID:30520965
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. PMID:30404926
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. PMID:30376835
Using human sequencing to guide craniofacial research. PMID:30375152
Population data improves variant interpretation in autosomal dominant polycystic kidney disease. PMID:30369598
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. PMID:30352563
Mutations in PERP Cause Dominant and Recessive Keratoderma. PMID:30321533
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. PMID:30319441
Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population. PMID:30212457
Multiple roles for O-glycans in Notch signalling. PMID:30207383
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
A Novel DPYD Variant Associated With Severe Toxicity of Fluoropyrimidines: Role of Pre-emptive DPYD Genotype Screening. PMID:30087856
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients. PMID:30083364
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. PMID:30029497
Correcting the F508del-CFTR variant by modulating eukaryotic translation initiation factor 3-mediated translation initiation. PMID:30006345
A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease. PMID:29924966
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. PMID:29922827
Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. PMID:29884752
Genetic ancestry and population differences in levels of inflammatory cytokines in women: Role for evolutionary selection and environmental factors. PMID:29879116
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PMID:29795570
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. PMID:29739035
Combined Immunodeficiency with Ring Chromosome 21. PMID:29656336
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PMID:29590114
MKLN1 splicing defect in dogs with lethal acrodermatitis. PMID:29565995
Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. PMID:29557500
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. PMID:29549119
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
Gene Editing and Gene-Based Therapeutics for Cardiomyopathies. PMID:29525646
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. PMID:29438995
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. PMID:29437776
The complex genetics of human insulin-like growth factor 2 are not reflected in public databases. PMID:29414792
Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses. PMID:29382735
A SNP panel for identification of DNA and RNA specimens. PMID:29370748
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. PMID:29369293
Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase. PMID:29327356
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data. PMID:29226803
Translational bioinformatics in mental health: open access data sources and computational biomarker discovery. PMID:29186302
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. PMID:29161432
Reproductive endocrine phenotypes relating to CHD7 mutations in humans. PMID:29152903
Prioritizing diversity in human genomics research. PMID:29151588
Minimotif Miner 4: a million peptide minimotifs and counting. PMID:29140456
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene. PMID:29104234
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. PMID:29036432
Hypertrophic Cardiomyopathy Gene Testing: Go Big? PMID:29030407
Variation in Akt protein kinases in human populations. PMID:28931550
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. PMID:28864462
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
A primer to clinical genome sequencing. PMID:28786837
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. PMID:28761081
ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. PMID:28659176
The Missing LINC for Genetic Cardiovascular Disease? PMID:28611034
Mining the Genome for Therapeutic Targets. PMID:28603140
Sources of discordance among germ-line variant classifications in ClinVar. PMID:28569743
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. PMID:28550066
Your DNA, Your Say. PMID:28517993
The Design of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Trial. PMID:28454798
Evaluating the Impact of LTA4H Genotype and Immune Status on Survival From Tuberculous Meningitis. PMID:28419367
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms. PMID:28389567
Variation in the Insulin-Like Growth Factor 1 Gene in Primates. PMID:28324014
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer. PMID:28138153
CanVar: A resource for sharing germline variation in cancer patients. PMID:28105316
http://dx.doi.org/10.1093/nar/1968

Tags:

Tags
More detailed information about this field from each metasource.

disease
metasource: Fairsharing.org
version: None

gene-disease association
metasource: Fairsharing.org
version: None

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general polymorphism databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

copy number variation (cnv)
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

gatk variant quality score recalibration (vqsr)
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

grch37/hg19
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

cancer
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

exome
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

genotype
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

high-throughput sequencing (hts)
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

phenotype
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

tumor
metasource: re3data.org
version: re3data.org: ExAC Browser; editing status 2021-09-08; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R32D29 last accessed: 2022-11-04

genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

population genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

exome sequencing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780

disease gene-disease association human genes and diseases polymorphism copy number variation (cnv) gatk variant quality score recalibration (vqsr) grch37/hg19 cancer exome genotype high-throughput sequencing (hts) phenotype tumor genetic variation population genetics exome sequencing rare diseases

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gnomAD

ESP

Wellcome Sanger Institute: Whole Exome Sequencing

UCSC Cancer Genomics Browser

NCBI Trace Archive

Genebass

Human Genetic Variation Database

UCSC Genome Browser database

GenBank

European Nucleotide Archive

Genomes OnLine Database

GWAS Diagram Browser

mirDNMR

UK Biobank

dbMTS

KRGDB

Gene4Denovo

Pharmacogenomics Knowledge Base

Arabidopsis eFP Browser

CNVIntegrate