Paired-end mapping reveals extensive structural variation in the human genome (Q24653260)

Jan O Korbel

1

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Andrea Tanzer

Andrea Tanzer

13

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Mark Bender Gerstein

21

Mark B Gerstein

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Michael P. Snyder

23

Michael Snyder

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Fabian Grubert

5

Fabian Grubert

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Alexander E Urban

2

Alexander Eckehart Urban

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Sherman Weissman

19

Sherman M Weissman

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Matthew Hurles

18

Matthew E Hurles

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Nigel Carter

17

Nigel P Carter

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author name string

Jason P Affourtit

3

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Brian Godwin

4

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Jan Fredrik Simons

6

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Philip M Kim

7

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Nicholas J Carriero

9

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Lei Du

10

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Bruce E Taillon

11

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Zhoutao Chen

12

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A C Eugenia Saunders

14

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Jianxiang Chi

15

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Fengtang Yang

16

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Timothy T Harkins

20

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Michael Egholm

Global variation in copy number in the human genome

22

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language of work or name

English

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publication date

19 October 2007

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published in

Science

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volume

318

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page(s)

420-6

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issue

5849

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Genomic disorders: molecular mechanisms for rearrangements and conveyed 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=2674581

A haplotype map of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Genomewide screening reveals high levels of insertional polymorphism in the human endogenous retrovirus family HERV-K(HML2): implications for present-day activity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Genome sequencing in microfabricated high-density picolitre reactors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Fine-scale structural variation of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Large-scale copy number polymorphism in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

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=2674581

A common inversion under selection in Europeans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Which transposable elements are active in the human genome?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Resolving the resolution of array CGH.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Genome assembly comparison identifies structural variants in the human genome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Copy number variation: new insights in genome diversity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

Non-B DNA conformations, genomic rearrangements, and human disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674581

28 September 2017

Identifiers

DOI

10.1126/SCIENCE.1149504

1 reference

183904

183904

1 reference

1 reference

1 reference