Origins and functional impact of copy number variation in the human genome (Q28730507)

Tomas Fitzgerald

11

0 references

Dalila Pinto

Dalila Pinto

2

0 references

Omer Gokcumen

Omer Gokcumen

5

0 references

Kati Kristiansson

Kati Kristiansson

14

0 references

Klaudia Walter

Klaudia Walter

22

0 references

Richard Redon

Richard Redon

3

0 references

Chris Barnes

Chris Barnes

9

0 references

Stephen W. Scherer

28

Stephen W Scherer

0 references

Jeffrey R MacDonald

Jeffrey R Macdonald

16

0 references

Armand Valsesia

Armand Valsesia

21

0 references

Lars Feuk

4

Lars Feuk

0 references

Donald F Conrad

1

Donald F Conrad

0 references

Matthew Hurles

29

Matthew E Hurles

0 references

Kathy Stirrups

20

Kathy Stirrups

0 references

Ifejinelo Onyiah

17

Ifejinelo Onyiah

0 references

Nigel Carter

26

Nigel P Carter

0 references

author name string

Yujun Zhang

6

0 references

Jan Aerts

7

0 references

T Daniel Andrews

8

0 references

Peter Campbell

10

0 references

Min Hu

12

0 references

Chun Hwa Ihm

13

0 references

Daniel G Macarthur

15

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Andy Wing Chun Pang

18

0 references

Sam Robson

19

0 references

John Wei

23

0 references

Charles Lee

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

27

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language of work or name

English

0 references

publication date

1 April 2010

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published in

Nature

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volume

464

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issue

7289

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page(s)

704-12

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cites work

1 reference

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Signals of recent positive selection in a worldwide sample of human populations

17 March 2017

1 reference

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The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host-pathogen interactions

17 March 2017

1 reference

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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Genetic variation in an individual human exome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Mapping and sequencing of structural variation from eight human genomes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

17 March 2017

1 reference

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The complete genome of an individual by massively parallel DNA sequencing

17 March 2017

1 reference

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

17 March 2017

1 reference

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A second generation human haplotype map of over 3.1 million SNPs

17 March 2017

1 reference

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Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Paired-end mapping reveals extensive structural variation in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

The diploid genome sequence of an individual human

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Global variation in copy number in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

A map of recent positive selection in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Fine-scale structural variation of the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

NestedMICA: sensitive inference of over-represented motifs in nucleic acid sequence

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Finishing the euchromatic sequence of the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Detection of large-scale variation in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

A new multipoint method for genome-wide association studies by imputation of genotypes

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Relative impact of nucleotide and copy number variation on gene expression phenotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Darwinian and demographic forces affecting human protein coding genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's 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=3330748

Mechanisms for human genomic rearrangements

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Contemplating effects of genomic structural variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

A robust statistical method for case-control association testing with copy number variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Assessing the evolutionary impact of amino acid mutations 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=3330748

The functional impact of structural variation in 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=3330748

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

G-quadruplexes in promoters throughout 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=3330748

Human genomic deletions mediated by recombination between Alu elements.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Non-B DNA conformations, genomic rearrangements, 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=3330748

Meiotic recombination hot spots and human DNA diversity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Frequent human genomic DNA transduction driven by LINE-1 retrotransposition

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Human minisatellites, repeat DNA instability and meiotic recombination

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

A common sequence motif associated with recombination hot spots and genome instability in 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=3330748

Human genetics: Individual genomes diversify

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330748

A high-resolution survey of deletion polymorphism in the human genome

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19812545

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE08516

1 reference

Dimensions Publication ID

228801

1052442014

0 references

228801

1 reference

1 reference

1 reference