(Q35840674)

10 August 2017

The functional spectrum of low-frequency coding variation (English)

1 reference

10 August 2017

22

Carrie Sougnez

0 references

Kristian Cibulskis

15

Kristian Cibulskis

0 references

Donna Muzny

20

Donna Muzny

0 references

Chris Tyler-Smith

7

Chris Tyler-Smith

1 reference

10 August 2017

34

Elaine Mardis

1 reference

10 August 2017

33

Stacey Gabriel

1 reference

10 August 2017

Jin Yu

25

0 references

Laura Clarke

Laura Clarke

13

0 references

David Altshuler

David Altshuler

27

0 references

Paul Flicek

Paul Flicek

32

0 references

David N. Cooper

David N Cooper

16

0 references

Aarno Palotie

35

Aarno Palotie

1 reference

10 August 2017

30

Mark Daly

1 reference

10 August 2017

28

Carlos D Bustamante

1 reference

10 August 2017

5

Simon Gravel

1 reference

10 August 2017

29

Andrew G Clark

1 reference

10 August 2017

23

Chip Stewart

1 reference

10 August 2017

36

Richard Gibbs

1 reference

10 August 2017

31

Mark DePristo

1 reference

10 August 2017

18

Chris Hartl

1 reference

10 August 2017

3

Amit R Indap

1 reference

10 August 2017

37

1000 Genomes Project

1 reference

10 August 2017

1

Gabor T Marth

1 reference

10 August 2017

Fuli Yu

2

1 reference

10 August 2017

Kiran Garimella

4

1 reference

10 August 2017

Wen Fung Leong

6

1 reference

10 August 2017

Matthew Bainbridge

8

1 reference

10 August 2017

Tom Blackwell

9

1 reference

10 August 2017

Xiangqun Zheng-Bradley

10

1 reference

10 August 2017

Yuan Chen

11

1 reference

10 August 2017

Danny Challis

12

1 reference

10 August 2017

Edward V Ball

14

1 reference

10 August 2017

Bob Fulton

17

1 reference

10 August 2017

Dan Koboldt

19

1 reference

10 August 2017

Richard Smith

21

1 reference

10 August 2017

Alistair Ward

24

1 reference

10 August 2017

Yali Xue

26

1 reference

10 August 2017

language of work or name

English

0 references

publication date

14 September 2011

1 reference

10 August 2017

1 reference

10 August 2017

12

1 reference

10 August 2017

R84

1 reference

10 August 2017

9

1 reference

https://scigraph.springernature.com/pub.10.1186/gb-2011-12-9-r84

10 August 2017

0 references

cites work

Demographic history and rare allele sharing among human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

A map of human genome variation from population-scale sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Database resources of the National Center for Biotechnology Information

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Assessing the evolutionary impact of amino acid mutations in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

An initial map of insertion and deletion (INDEL) variation in the human genome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Complement factor H polymorphism in age-related macular degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

SIFT: Predicting amino acid changes that affect protein function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Human non-synonymous SNPs: server and survey

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Are rare variants responsible for susceptibility to complex diseases?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Statistical properties of segregating sites

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Integrating common and rare genetic variation in diverse human populations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Mapping short DNA sequencing reads and calling variants using mapping quality scores

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Whole-genome sequencing and variant discovery in C. elegans.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Context dependence, ancestral misidentification, and spurious signatures of natural selection.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

On the allelic spectrum of human disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

A general approach to single-nucleotide polymorphism discovery.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3308047

Mendelian disorders and multifactorial traits: the big divide or one for all?

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FGB-2011-12-9-R84

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FGB-2011-12-9-R84

21 January 2018

Identifiers

DOI

10.1186/GB-2011-12-9-R84

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference

10 August 2017

1 reference