(Q35004530)

5 August 2017

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans (English)

1 reference

5 August 2017

1

1 reference

5 August 2017

18

Guy A Rouleau

0 references

Françoise Le Deist

20

Françoise Le Deist

0 references

Alan Hodgkinson

Alan Hodgkinson

2

0 references

Elie Haddad

Elie Haddad

19

0 references

Daniel Sinnett

Daniel Sinnett

16

0 references

Jacques L. Michaud

17

Jacques L Michaud

1 reference

5 August 2017

3

Julie Hussin

1 reference

5 August 2017

21

Philip Awadalla

1 reference

5 August 2017

Youssef Idaghdour

4

1 reference

5 August 2017

Vanessa Bruat

5

1 reference

5 August 2017

Thibault de Maillard

6

1 reference

5 August 2017

Jean-Christophe Grenier

7

1 reference

5 August 2017

Elias Gbeha

8

1 reference

5 August 2017

Fadi F Hamdan

9

1 reference

5 August 2017

Simon Girard

10

1 reference

5 August 2017

Jean-François Spinella

11

1 reference

5 August 2017

Mathieu Larivière

12

1 reference

5 August 2017

Virginie Saillour

13

1 reference

5 August 2017

Jasmine Healy

14

1 reference

5 August 2017

Isabel Fernández

15

1 reference

5 August 2017

26 September 2013

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5 August 2017

1 reference

5 August 2017

9

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5 August 2017

9

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5 August 2017

e1003815

1 reference

Creative Commons Attribution 4.0 International

5 August 2017

start time

26 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Selective constraint, background selection, and mutation accumulation variability within and between human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

An integrated map of genetic variation from 1,092 human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome".

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

A systematic survey of loss-of-function variants in human protein-coding genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

The functional spectrum of low-frequency coding variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

8 July 2018

Genomics for the world

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Demographic history and rare allele sharing among human populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Widespread RNA and DNA sequence differences in the human transcriptome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Admixed ancestry and stratification of Quebec regional populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

A map of human genome variation from population-scale sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Finding the missing heritability of complex diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Estimating the rate of adaptive molecular evolution in the presence of slightly deleterious mutations and population size change

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

A flexible forward simulator for populations subject to selection and demography

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Principal components analysis corrects for stratification in genome-wide association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Population history and its impact on medical genetics in Quebec

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Distribution and intensity of constraint in mammalian genomic sequence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Allelic variation in gene expression is common in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

The application of molecular genetic approaches to the study of human evolution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Human genetics: lessons from Quebec populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

An apportionment of human DNA diversity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Differential confounding of rare and common variants in spatially structured populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Context-dependent mutation rates may cause spurious signatures of a fixation bias favoring higher GC-content in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome".

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Deep Human Genealogies Reveal a Selective Advantage to Be on an Expanding Wave Front

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003815

Prevalence and distribution of genetic diseases in Quebec: impact of the past on the present

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784517

Increased exonic de novo mutation rate in individuals with schizophrenia

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086152

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distributions of exons and introns in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086152

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome"

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086152

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003815

1 reference

5 August 2017

1 reference

5 August 2017

1 reference