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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array by Teresita Díaz de Ståhl; Johanna Sandgren; Arkadiusz Piotrowski; Helena Nord; Robin Andersson; Uwe Menzel; Adam Bogdan; Ann-Charlotte Thuresson; Andrzej Poplawski; Desiree von Tell; Caisa M. Hansson; Amir I. Elshafie; Gehad ElGhazali; Stephan Imreh; Magnus Nordenskjöld; Meena Upadhyaya; Jan Komorowski; Carl E.G. Bruder; Jan P. Dumanski is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array about?

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 $350 kb and involved in total $117 Mb 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

Who reads Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array?

Author

Teresita Díaz de Ståhl; Johanna Sandgren; Arkadiusz Piotrowski; Helena Nord; Robin Andersson; Uwe Menzel; Adam Bogdan; Ann-Charlotte Thuresson; Andrzej Poplawski; Desiree von Tell; Caisa M. Hansson; Amir I. Elshafie; Gehad ElGhazali; Stephan Imreh; Magnus Nordenskjöld; Meena Upadhyaya; Jan Komorowski; Carl E.G. Bruder; Jan P. Dumanski

Publisher

Hindawi Limited

Published

2008

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)