Nat Genet. 2004 Sep;36(9):949-51. Epub 2004 Aug 1.

Detection of large-scale variation in the human genome.

Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C.

Source

Department of Pathology, Brigham and Women's Hospital, 20 Shattuck St., Thorn 6-28, Boston, Massachusetts 02115, USA.

Abstract

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

Comment in

Frequency of new copy number variation in humans. [Nat Genet. 2005]
Frequency of new copy number variation in humans.van Ommen GJ. Nat Genet. 2005 Apr; 37(4):333-4.
As normal as normal can be? [Nat Genet. 2004]
As normal as normal can be?Carter NP. Nat Genet. 2004 Sep; 36(9):931-2.

PMID:: 15286789; [PubMed - indexed for MEDLINE]

Free full text

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Miscellaneous

See the articles recommended by F1000Prime's Faculty of 5,000 renowned researchers and clinicians, assisted by 5,000 associates. - F1000

Supplemental Content

Save items

Related citations in PubMed

Segmental duplications and copy-number variation in the human genome. [Am J Hum Genet. 2005]
Segmental duplications and copy-number variation in the human genome.
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, et al. Am J Hum Genet. 2005 Jul; 77(1):78-88. Epub 2005 May 25.
A comprehensive analysis of common copy-number variations in the human genome. [Am J Hum Genet. 2007]
A comprehensive analysis of common copy-number variations in the human genome.
Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, et al. Am J Hum Genet. 2007 Jan; 80(1):91-104. Epub 2006 Dec 5.
Review Gene duplication: a drive for phenotypic diversity and cause of human disease. [Annu Rev Genomics Hum Genet. 2...]
Review Gene duplication: a drive for phenotypic diversity and cause of human disease.
Conrad B, Antonarakis SE. Annu Rev Genomics Hum Genet. 2007; 8:17-35.
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. [Hum Mol Genet. 2008]
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies.
Lee AS, Gutiérrez-Arcelus M, Perry GH, Vallender EJ, Johnson WE, Miller GM, Korbel JO, Lee C. Hum Mol Genet. 2008 Apr 15; 17(8):1127-36. Epub 2008 Jan 7.
Review [Structural variation in the human genome contributes to variation of traits]. [Tidsskr Nor Laegeforen. 2008]
Review [Structural variation in the human genome contributes to variation of traits].
Barøy T, Misceo D, Frengen E. Tidsskr Nor Laegeforen. 2008 Sep 11; 128(17):1951-5.

See reviews... See all...

Cited by over 100 PubMed Central articles

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. [Mol Syndromol. 2013]
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Brosens E, Eussen H, van Bever Y, van der Helm RM, Ijsselstijn H, Zaveri HP, Wijnen R, Scott DA, Tibboel D, de Klein A. Mol Syndromol. 2013 Feb; 4(1-2):20-6.
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. [PLoS One. 2013]
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, et al. PLoS One. 2013; 8(4):e61365. Epub 2013 Apr 18.
On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. [PLoS One. 2013]
On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.
Lucas Lledó JI, Cáceres M. PLoS One. 2013; 8(4):e61292. Epub 2013 Apr 23.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
dbVar
Link from PubMed to dbVar
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Detection of large-scale variation in the human genome.
Detection of large-scale variation in the human genome.
Nat Genet. 2004 Sep ;36(9):949-51. Epub 2004 Aug 1 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: