The ExAC browser: displaying reference data information from over 60 000 exomes.
about
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancerCanVar: A resource for sharing germline variation in cancer patients.A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa.Sources of discordance among germ-line variant classifications in ClinVar.Your DNA, Your Say.Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing.Evaluating the Impact of LTA4H Genotype and Immune Status on Survival From Tuberculous Meningitis.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.Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.The Design of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Trial.A primer to clinical genome sequencingQuantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.Variation in the Insulin-Like Growth Factor 1 Gene in Primates.Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.Minimotif Miner 4: a million peptide minimotifs and counting.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Prioritizing diversity in human genomics research.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.Translational bioinformatics in mental health: open access data sources and computational biomarker discovery.Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Variation in Akt protein kinases in human populations.A SNP panel for identification of DNA and RNA specimens.Mining the Genome for Therapeutic Targets.Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1.Hypertrophic Cardiomyopathy Gene Testing: Go Big?Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.The complex genetics of human insulin-like growth factor 2 are not reflected in public databases.MKLN1 splicing defect in dogs with lethal acrodermatitis.Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Gene Editing and Gene-Based Therapeutics for Cardiomyopathies.Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.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.The Missing LINC for Genetic Cardiovascular Disease?
P2860
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P2860
The ExAC browser: displaying reference data information from over 60 000 exomes.
description
2016 nî lūn-bûn
@nan
2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
The ExAC browser: displaying reference data information from over 60 000 exomes.
@ast
The ExAC browser: displaying reference data information from over 60 000 exomes.
@en
type
label
The ExAC browser: displaying reference data information from over 60 000 exomes.
@ast
The ExAC browser: displaying reference data information from over 60 000 exomes.
@en
prefLabel
The ExAC browser: displaying reference data information from over 60 000 exomes.
@ast
The ExAC browser: displaying reference data information from over 60 000 exomes.
@en
P2093
P2860
P356
P1476
The ExAC browser: displaying reference data information from over 60 000 exomes.
@en
P2093
Ben Weisburd
Beryl B Cummings
Brett Thomas
Daniel Birnbaum
Daniel G MacArthur
David Kavanagh
Douglas M Ruderfer
Konrad J Karczewski
Matthew Solomonson
Monkol Lek
P2860
P304
P356
10.1093/NAR/GKW971
P407
P577
2016-11-28T00:00:00Z