Using HapMap data: a cautionary note

Biswas, Nidhan K. ; Dey, Badal ; Majumder, Partha P. (2007) Using HapMap data: a cautionary note European Journal of Human Genetics, 15 . pp. 246-249. ISSN 1018-4813

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The HapMap data are being widely used in human genetic studies. We show by direct resequencing of a 6-kb region of chromosome 1 that the HapMap data are unreliable for this region. This region contains a recent mitochondrial (mt) DNA insertion. The HapMap data report the corresponding mtDNA variation and not the nuclear DNA variation. In view of mtDNA insertions of varying lengths throughout the human genome and considerable segmental duplications, it is necessary to use the HapMap data cautiously.

Item Type:Article
Source:Copyright of this article belongs to Nature Publishing Group.
Keywords:Hapmap; Mitochondrial DNA; Autosomal Insertion; Segmental Duplication
ID Code:21376
Deposited On:20 Nov 2010 13:01
Last Modified:17 May 2016 05:35

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