Global diversity, population stratification, and selection of human copy-number variation (Q36055779)

11 August 2017

Global diversity, population stratification, and selection of human copy-number variation (English)

1 reference

11 August 2017

1

1 reference

11 August 2017

27

1 reference

11 August 2017

41

Elza Khusnutdinova

0 references

Ene Metspalu

32

Ene Metspalu

0 references

Mait Metspalu

45

Mait Metspalu

0 references

Chris Tyler-Smith

21

Chris Tyler-Smith

1 reference

11 August 2017

Hovhannes Sahakyan

13

0 references

Irene Gallego Romero

Irene Gallego Romero

23

0 references

Cristian Capelli

Cristian Capelli

18

0 references

Toomas Kivisild

Toomas Kivisild

29

0 references

Draga Toncheva

Draga Toncheva

26

0 references

Antti Sajantila

Antti Sajantila

31

0 references

Aashish R Jha

Aashish R Jha

24

0 references

George van Driem

George van Driem

22

0 references

Swapan Mallick

2

Swapan Mallick

1 reference

11 August 2017

33

Jüri Parik

1 reference

11 August 2017

34

Richard Villems

1 reference

11 August 2017

Olga L Posukh

12

0 references

Levon Yepiskoposyan

15

Levon Yepiskoposyan

1 reference

11 August 2017

11

Lynn B Jorde

1 reference

11 August 2017

46

Sarah A Tishkoff

1 reference

11 August 2017

43

Cheryl Winkler

1 reference

11 August 2017

49

Nick Patterson

1 reference

11 August 2017

50

David Reich

1 reference

11 August 2017

51

Evan E Eichler

1 reference

11 August 2017

17

Claudio M Bravi

1 reference

11 August 2017

37

Cynthia M Beall

1 reference

11 August 2017

16

M Syafiq Abdullah

1 reference

11 August 2017

9

Susanne Nordenfelt

1 reference

11 August 2017

36

George Ayodo

1 reference

11 August 2017

47

Stanislav Dryomov

1 reference

11 August 2017

28

Brenna Henn

1 reference

11 August 2017

19

Tor Hervig

1 reference

11 August 2017

30

Andres Ruiz-Linares

1 reference

11 August 2017

48

Rem Sukernik

1 reference

11 August 2017

38

Anna Di Rienzo

1 reference

11 August 2017

10

Michael Bamshad

1 reference

11 August 2017

14

W Scott Watkins

1 reference

11 August 2017

Sena Karachanak-Yankova

25

Sena Karachanak-Yankova

1 reference

11 August 2017

42

William Klitz

1 reference

11 August 2017

8

Carl Baker

1 reference

11 August 2017

3

Bradley J Nelson

1 reference

11 August 2017

Fereydoun Hormozdiari

4

Fereydoun Hormozdiari

1 reference

11 August 2017

7

Bradley P Coe

1 reference

11 August 2017

6

John Huddleston

1 reference

11 August 2017

5

Niklas Krumm

1 reference

11 August 2017

Joseph T S Wee

20

1 reference

11 August 2017

Elena B Starikovskaya

35

1 reference

11 August 2017

Michael F Hammer

39

1 reference

11 August 2017

Rita Khusainova

40

1 reference

11 August 2017

Damian Labuda

44

1 reference

11 August 2017

language of work or name

English

0 references

publication date

6 August 2015

1 reference

11 August 2017

1 reference

11 August 2017

349

1 reference

11 August 2017

6253

1 reference

11 August 2017

aab3761

1 reference

Replicated linear association between DUF1220 copy number and severity of social impairment in autism

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Genome sequence of a 45,000-year-old modern human from western Siberia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Ancient human genomes suggest three ancestral populations for present-day Europeans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Refining analyses of copy number variation identifies specific genes associated with developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

The genetic prehistory of the New World Arctic

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Maternal history of Oceania from complete mtDNA genomes: contrasting ancient diversity with recent homogenization due to the Austronesian expansion.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

The deleterious mutation load is insensitive to recent population history

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Reconstructing Native American migrations from whole-genome and whole-exome data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

The complete genome sequence of a Neanderthal from the Altai Mountains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Evolution and diversity of copy number variation in the great ape lineage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Identifying recent adaptations in large-scale genomic data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Estimating the human mutation rate using autozygosity in a founder population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

A high-coverage genome sequence from an archaic Denisovan individual

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Rate of de novo mutations and the importance of father's age to disease risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Structural diversity and African origin of the 17q21.31 inversion polymorphism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Copy number variation detection and genotyping from exome sequence data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

A copy number variation morbidity map of developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Variation in genome-wide mutation rates within and between human families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

DPY19L2 deletion as a major cause of globozoospermia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Population-genetic properties of differentiated human copy-number polymorphisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Mapping copy number variation by population-scale genome sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Genetic history of an archaic hominin group from Denisova Cave in Siberia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Diversity of human copy number variation and multicopy genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

A Draft Sequence of the Neandertal Genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Complete Khoisan and Bantu genomes from southern Africa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Ancient human genome sequence of an extinct Palaeo-Eskimo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Population analysis of large copy number variants and hotspots of human genetic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Genotype, haplotype and copy-number variation in worldwide human populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Association between microdeletion and microduplication at 16p11.2 and autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Recurrent 16p11.2 microdeletions in autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Global variation in copy number in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Large-scale copy number polymorphism in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Genetic structure of human populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Hypervariable 'minisatellite' regions in human DNA.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

A burst of segmental duplications in the genome of the African great ape ancestor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Large-scale discovery of novel genetic causes of developmental disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Characteristics of neutral and deleterious protein-coding variation among individuals and populations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Glutamatergic and dopaminergic neurons mediate anxiogenic and anxiolytic effects of CRHR1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Common deletion polymorphisms in the human genome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

Constant darkness is a circadian metabolic signal in mammals

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568308

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.AAB3761

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.AAB3761

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26249230

1 reference