(Q29615756)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

1 reference

1 reference

1 reference

50

Gerstein MB

1 reference

30 April 2017

1 reference

ORCID Public Data File 2021

Toby Hunt

1 reference

ORCID Public Data File 2021

author name string

MacArthur DG

1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Balasubramanian S

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Frankish A

3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Huang N

4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Morris J

5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Walter K

6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Jostins L

7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Habegger L

8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Pickrell JK

9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Montgomery SB

10

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Albers CA

11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Zhang ZD

12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Conrad DF

13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Lunter G

14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Zheng H

15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Ayub Q

16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

DePristo MA

17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Banks E

18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Hu M

19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Handsaker RE

20

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Rosenfeld JA

21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Fromer M

22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Jin M

23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Mu XJ

24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Khurana E

25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Ye K

26

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Kay M

27

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Saunders GI

28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Suner MM

29

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Hunt T

30

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Barnes IH

31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Amid C

32

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Carvalho-Silva DR

33

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Bignell AH

34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Snow C

35

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Yngvadottir B

36

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Bumpstead S

37

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Cooper DN

38

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Xue Y

39

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Romero IG

40

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Wang J

41

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Li Y

42

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Gibbs RA

43

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

McCarroll SA

44

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Dermitzakis ET

45

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Pritchard JK

46

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Barrett JC

47

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Harrow J

48

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Hurles ME

49

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

Tyler-Smith C

51

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

language of work or name

1 reference

30 April 2017

publication date

17 February 2012

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

volume

335

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

issue

6070

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

page(s)

823-8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

on focus list of Wikimedia project

30 April 2017

ScienceSource

0 references

cites work

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

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Mapping copy number variation by population-scale genome sequencing

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Gene inactivation and its implications for annotation in the era of personal genomics

30 April 2017

1 reference

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A map of human genome variation from population-scale sequencing

30 April 2017

1 reference

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Understanding mechanisms underlying human gene expression variation with RNA sequencing

30 April 2017

1 reference

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Transcriptome genetics using second generation sequencing in a Caucasian population

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Origins and functional impact of copy number variation in the human genome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Genetic variation in an individual human exome

30 April 2017

1 reference

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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

The cells and logic for mammalian sour taste detection

30 April 2017

1 reference

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GENCODE: producing a reference annotation for ENCODE

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Spread of an inactive form of caspase-12 in humans is due to recent positive selection

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

When less is more: gene loss as an engine of evolutionary change

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

The costs of human inbreeding and their implications for variations at the DNA level

30 April 2017

1 reference

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Integrated detection and population-genetic analysis of SNPs and copy number variation

30 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Mapping and sequencing of structural variation from eight human genomes

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Integrative genomics viewer

1 May 2017

1 reference

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Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

The otter annotation system

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

The Pfam protein families database

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Splicing in action: assessing disease causing sequence changes

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Genome-wide detection and characterization of positive selection in human populations

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

A map of recent positive selection in the human genome

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Distribution and intensity of constraint in mammalian genomic sequence

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

MINT, the molecular interaction database: 2009 update

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Human Protein Reference Database--2009 update

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Towards a proteome-scale map of the human protein–protein interaction network

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease

1 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Characterising and predicting haploinsufficiency in the human genome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

The characterization of twenty sequenced human genomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Loss-of-function variants in the genomes of healthy humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Positive selection of a CD36 nonsense variant in sub-saharan Africa, but no association with severe malaria phenotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

Gene conversion: mechanisms, evolution and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3299548

A low genomic number of recessive lethals in natural populations of bluefin killifish and zebrafish.

3 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Haplotype sorting using human fosmid clone end-sequence pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Evoker: a visualization tool for genotype intensity data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Integrated graphical analysis of protein sequence features predicted from sequence composition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Structural determinants for membrane trafficking and G protein selectivity of a mouse olfactory receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Probable Inference, the Law of Succession, and Statistical Inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Genomic scans for selective sweeps using SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Calibrating a coalescent simulation of human genome sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

Online predicted human interaction database

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

An improved, bias-reduced probabilistic functional gene network of baker's yeast, Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1215040

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1215040

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

2 references

30 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22344438

PubMed publication ID

2 references

30 April 2017