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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Profiling of copy number variations (CNVS) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
Human Mutation, Volume 29, No. 3, Year 2008
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Description
To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (CGH) to a BAC array covering the human genome, using DNA extracted from peripheral blood, thus avoiding any culture-induced rearrangements. By applying a newly developed computational algorithm based on Hidden Markov modeling, we identified 1,078 autosomal CNVs, including at least two neighboring/overlapping BACs, which represent 315 distinct regions. The average size of the sequence polymorphisms was ∼350kb and involved in total ∼117Mb or ∼3.5% of the genome. Gains were about four times more common than deletions, and segmental duplications (SDs) were overrepresented, especially in larger deletion variants. This strengthens the notion that SDs often define hotspots of chromosomal rearrangements. Over 60% of the identified autosomal rearrangements match previously reported CNVs, recognized with various platforms. However, results from chromosome X do not agree well with the previously annotated CNVs. Furthermore, data from single BACs deviating in copy number suggest that our above estimate of total variation is conservative. This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics. © 2007 Wiley-Liss, Inc.
Authors & Co-Authors
Díaz De Ståhl, Teresita
Sweden, Uppsala
Rudbecklaboratoriet
Sandgren, Johanna
Sweden, Uppsala
Akademiska Sjukhuset
Piotrowski, Arkadiusz
United States, Birmingham
The University of Alabama at Birmingham
Nord, Helena
Sweden, Uppsala
Rudbecklaboratoriet
Andersson, Robin
Sweden, Uppsala
Uppsala Universitet
Menzel, Uwe
Sweden, Uppsala
Rudbecklaboratoriet
Bogdan, Adam
Poland, Gdansk
Gdanski Uniwersytet Medyczny
Thuresson, Ann Charlotte
Sweden, Uppsala
Rudbecklaboratoriet
Poplawski, Andrzej
United States, Birmingham
The University of Alabama at Birmingham
Von Teil, Desiree
United States, Birmingham
The University of Alabama at Birmingham
Hansson, Caisa M.
Sweden, Uppsala
Rudbecklaboratoriet
Elshafie, Amir Ibrahim
Sudan, Khartoum
Alribat University Hospital
ElGhazali, Gehad Eltayeb B.
Saudi Arabia, Riyadh
King Fahad Medical City
Imreh, Stephan
Sweden, Stockholm
Karolinska Institutet
Nordenskjöld, Magnus
Sweden, Stockholm
Karolinska Universitetssjukhuset
Upadhyaya, Meena
United Kingdom, Cardiff
University Hospital of Wales
Komorowski, Jan
Sweden, Uppsala
Uppsala Universitet
Bruder, Carl E.G.
United States, Birmingham
The University of Alabama at Birmingham
Dumanski, Jan P.
Sweden, Uppsala
Rudbecklaboratoriet
United States, Birmingham
The University of Alabama at Birmingham
Statistics
Citations: 53
Authors: 19
Affiliations: 10
Identifiers
Doi:
10.1002/humu.20659
ISSN:
10597794
Research Areas
Genetics And Genomics