Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Q36913464)

17 August 2017

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (English)

1 reference

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

17 August 2017

corrigendum / erratum

0 references

author

Gonçalo Abecasis

5

1 reference

17 August 2017

7

Stacey Gabriel

1 reference

17 August 2017

Timothy D O'Connor

2

0 references

Goo Jun

Goo Jun

3

0 references

David Altshuler

David Altshuler

9

0 references

Jay Shendure

Jay Shendure

10

0 references

Deborah A Nickerson

11

Deborah A Nickerson

1 reference

17 August 2017

14

Joshua M Akey

1 reference

17 August 2017

8

Mark J Rieder

1 reference

17 August 2017

4

Hyun Min Kang

1 reference

17 August 2017

12

Michael J Bamshad

1 reference

NHLBI GO Exome Sequencing Project

17 August 2017

13

NHLBI Exome Sequencing Project

1 reference

17 August 2017

6

Suzanne M Leal

1 reference

17 August 2017

Wenqing Fu

1

1 reference

17 August 2017

language of work or name

English

0 references

publication date

28 November 2012

1 reference

17 August 2017

1 reference

17 August 2017

493

1 reference

17 August 2017

7431

1 reference

17 August 2017

216-220

1 reference

https://scigraph.springernature.com/pub.10.1038/nature11690

17 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Rare and common variants: twenty arguments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Demographic history and rare allele sharing among human populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

MutationTaster evaluates disease-causing potential of sequence alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Detection of nonneutral substitution rates on mammalian phylogenies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Identification of deleterious mutations within three human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Natural selection on genes that underlie human disease susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Proportionally more deleterious genetic variation in European than in African populations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Recent acceleration of human adaptive evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Calibrating a coalescent simulation of human genome sequence variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

The genetic association database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

29 September 2017

Estimating allele age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

The age of a neutral mutant persisting in a finite population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Recent explosive human population growth has resulted in an excess of rare genetic variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Impacts of gene essentiality, expression pattern, and gene compactness on the evolutionary rate of mammalian proteins.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676746

Computational neuroanatomy of speech production.

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE11690

LAMC1 gene is associated with premature ovarian failure

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23201682

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23201682

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The age of a mutation in a general coalescent tree

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE11690

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE11690

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

1 reference