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Using HapMap data: a cautionary note.
Biswas, Dey, Majumder
European journal of human genetics : EJHG1 Feb 2007Open access
NobleIDark:/48914/w1/20260515/E43445DDDOI10.1038/sj.ejhg.5201743
Using HapMap data: a cautionary note.
Biswas, Dey, Majumder · European journal of human genetics : EJHG · 2007
NobleIDark:/48914/w1/20260515/E43445DDDOI10.1038/sj.ejhg.5201743
Abstract
The HapMap data are being widely used in human genetic studies. We show by direct resequencing of a approximately 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.