The ExAC browser: displaying reference data information from over 60 000 exomes. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q31145461

about

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer CanVar: 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 sequencing Quantitative 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

Q29178984-9D8D9271-71F6-450B-8A91-95DC9C64262D Q30490732-3BA80544-4F5C-426F-A381-B0495618AED1 Q38650715-A42485CD-D4F8-43B4-96DC-440AB3F43510 Q38704019-6934EDDB-26C5-4127-B305-051637193DA2 Q38734577-18CDC974-DD29-4C7E-B110-DC3D3007282B Q38751318-5345BC11-526F-4813-965E-1901627E325E Q38778193-284FDC0B-5182-4984-9031-E7865B3B9387 Q38847165-9F9083BA-45E2-4E94-89EC-81BBD2BA7E00 Q40082850-FCD1D174-5CDE-46D0-848B-7834B90ABF97 Q40246848-594ECE7E-A206-42C2-A9E0-0B9F63B9FE29 Q41369880-3A65B630-388D-48AB-A376-8353E4F93C79 Q41369999-1BB54C8D-A12A-4D9D-841C-BECC73E8178D Q41626761-64EC807A-9E86-422F-9B6F-AF20AC53979D Q41639348-D9B826FA-15AD-4D14-A679-8DB3B8AC0C4F Q45943092-F2C2F5EE-DB6F-4E32-9D6A-98973B4A50D8 Q46284271-13602EF4-4DC1-4BE8-B390-D57DD90C90A6 Q46400473-DFB5C352-C893-44DA-95A7-9EA19BA8CB3A Q46852373-000BDCA2-3FA4-40FD-835C-259FF4B778E2 Q47096120-34C5AC29-6AE6-450A-BEA5-2E5E590C7C19 Q47097898-045759A7-5E85-4D2F-B066-0EEF3E8FABD3 Q47213433-E58C4D5A-BA63-4C60-A4BF-D682E57B0A5D Q47387884-E9A9661F-2FC5-4E37-844D-8EAF1C09D8A8 Q47397598-BD69E8A1-E665-4C32-9FD7-CBC583D28240 Q47547803-7C1643AA-2ACE-4E42-A599-175012DA6F45 Q47770082-818DE6D1-8BDF-4E58-8CCB-104CB59ECC62 Q47771376-08BE4B39-EADC-4CD2-8C6F-06EC555C824F Q48164608-CA985616-63F3-4615-87D4-87B1C8F74A88 Q48295377-C1431CAF-64CD-4B85-9A29-A5DC9BDDC9D6 Q50036814-81D78436-1E21-4918-9F0D-7BC735B429B6 Q50043899-942D6904-9533-4E08-BFF3-1E7976B4EDDF Q50067079-71039ABC-8F1B-4D59-877E-AA7205EC0B78 Q50073098-80690D7E-BADE-40EF-B8B5-221461637F71 Q50134100-610FD6EF-3D3E-482B-8E82-6C1030F32CEC Q51732322-4BB0A279-E907-4369-9152-3B5F7BADAA19 Q52654303-F53E7D88-4DDA-4E8C-9C21-BBF69AB25CEE Q52662536-D893719E-A4E9-43D7-9324-A09D1B0F4D2C Q52775689-1B7F6B37-DBBF-413D-B717-C6324015E309 Q53076766-74FC7211-BCB2-456B-A021-69CE46B045BE Q54254474-68D8ECAC-39D5-477C-AD29-EF933F977DAA Q54966026-F98E2981-E792-4CE4-8AFC-23BBF89EDF0F

P2860

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

http://www.wikidata.org/entity/Q31145461

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

P1433

Q31145461-EC74940A-846A-4FAD-8524-3FDC978D0768

P1476

Q31145461-2F862DEB-E81D-4F20-806D-2E23AA31194A

P2093

Q31145461-0570B53E-86F6-45AE-83C7-1A41CC1C2E16

Q31145461-1FFF23B8-92A5-44B3-9C13-E04E3ED26CF6

Q31145461-55AC51C3-C3B2-4A5C-9888-29EEA373CEFB

Q31145461-575DDC02-3762-4302-8DE9-904001034494

Q31145461-8661F49A-F568-48D7-A691-10603561E879

Q31145461-A4BBA60C-0B77-450E-9827-57AD2B2D19ED

Q31145461-B6832EC9-2CBF-4E55-A612-30C9A88C2A15

Q31145461-B906FAC7-B987-430D-99F2-02F292963964

Q31145461-C6856BA7-B21D-44E7-8E87-287D2478537E

Q31145461-D5C8CA0A-1E3E-496E-A11B-7F788AFC9558

P2860

Q31145461-0DC428F2-00BB-4BC7-ACE4-E41B20309B88

Q31145461-153FABC6-9739-4BD0-A3C2-D8A11FBFC11A

Q31145461-15E6FC1B-D722-4CFB-9675-8764DE38323B

Q31145461-2028DCB7-A64A-4796-8C97-564685E66E4E

Q31145461-27616078-1C90-4C2E-9A24-CA1D7096AB09

Q31145461-284FE473-4C9C-448D-AA73-41230CD0D2A1

Q31145461-362E480D-7BE4-42FD-BBF0-B484EDA628FD

Q31145461-5BE114E9-6E9C-49E4-B078-150CA3DED3DD

Q31145461-5C74613A-CCE5-4AB6-8542-2D9AC881B591

Q31145461-69C9FF7E-E8CE-439A-BB71-163A6D377D5C

P304

Q31145461-B644C3C7-1978-4D1F-80F9-746BC89BE6C7

P31

Q31145461-0AA1AAB6-CDE7-4982-8296-7D39DDF22870

P356

Q31145461-2BB51479-8EDA-4FF5-B81B-50FAABA398C8

P407

Q31145461-00FD781F-1733-4494-999E-A37416B5AB72

P433

Q31145461-1009F942-1867-4D8A-A6A9-0E7F70384CEB

P478

Q31145461-BEB43EAC-31B5-4B49-AB1A-19034CDD45E1

P50

Q31145461-380E7C3D-3666-48B6-B933-86E45CF941BB

Q31145461-AFE9922B-3F60-4A99-A87D-B822AFF911C3

P577

Q31145461-5FC6AE54-2D75-4410-AB8F-FB35B941904C

P698

Q31145461-94887758-9FC8-459B-A9D3-F4327417DFE2

P932

Q31145461-17B4B93F-E2DF-4C1D-BBED-BAEEF3A7F26B

P356

P1433

Nucleic Acids Research

P1476

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

@en

P2093

Ben Weisburd

http://www.w3.org/2001/XMLSchema#string

Beryl B Cummings

http://www.w3.org/2001/XMLSchema#string

Brett Thomas

http://www.w3.org/2001/XMLSchema#string

Daniel Birnbaum

http://www.w3.org/2001/XMLSchema#string

Daniel G MacArthur

http://www.w3.org/2001/XMLSchema#string

David Kavanagh

http://www.w3.org/2001/XMLSchema#string

Douglas M Ruderfer

http://www.w3.org/2001/XMLSchema#string

Konrad J Karczewski

http://www.w3.org/2001/XMLSchema#string

Matthew Solomonson

http://www.w3.org/2001/XMLSchema#string

Monkol Lek

http://www.w3.org/2001/XMLSchema#string

P2860

The human genome browser at UCSC

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

A method and server for predicting damaging missense mutations

Ancient DNA and the rewriting of human history: be sparing with Occam's razor

A framework for the interpretation of de novo mutation in human disease

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.

P304

D840-D845

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/NAR/GKW971

http://www.w3.org/2001/XMLSchema#string

P407

P433

D1

http://www.w3.org/2001/XMLSchema#string

P478

45

http://www.w3.org/2001/XMLSchema#string

P50

Mark Joseph Daly

Kaitlin E Samocha

P577

2016-11-28T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27899611

http://www.w3.org/2001/XMLSchema#string

P932

5210650

http://www.w3.org/2001/XMLSchema#string