The ExAC browser: displaying reference data information from over 60 000 exomes (Q31145461)

21 August 2017

The ExAC browser: displaying reference data information from over 60 000 exomes (English)

1 reference

21 August 2017

1 reference

Kaitlin E Samocha

9

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Mark Joseph Daly

13

object named as

Mark J Daly

1 reference

21 August 2017

Konrad J Karczewski

1

1 reference

21 August 2017

Ben Weisburd

2

1 reference

21 August 2017

Brett Thomas

3

1 reference

21 August 2017

Matthew Solomonson

4

1 reference

21 August 2017

Douglas M Ruderfer

5

1 reference

21 August 2017

David Kavanagh

6

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21 August 2017

Tymor Hamamsy

7

1 reference

21 August 2017

Monkol Lek

8

1 reference

21 August 2017

Beryl B Cummings

10

1 reference

21 August 2017

Daniel Birnbaum

11

1 reference

21 August 2017

The Exome Aggregation Consortium

12

1 reference

21 August 2017

Daniel G MacArthur

14

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21 August 2017

language of work or name

English

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publication date

28 November 2016

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21 August 2017

Nucleic Acids Research

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21 August 2017

45

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21 August 2017

D1

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21 August 2017

D840-D845

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Creative Commons Attribution 4.0 International

21 August 2017

start time

24 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

The Ensembl Variant Effect Predictor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

A global reference for human genetic variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

D³: Data-Driven Documents

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

The human genome browser at UCSC

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210650

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKW971

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKW971

21 January 2018

Identifiers

DOI

10.1093/NAR/GKW971

1 reference

journals/nar/KarczewskiWTSRK17

21 August 2017

1 reference

DBLP Dataset 2021-01-02

release_25kbt42mz5ebhhc2tqna2qscu4

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/25kbt42mz5ebhhc2tqna2qscu4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

21 August 2017

PubMed publication ID

27899611

1 reference