Using HapMap data: a cautionary note
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Published on: August 15, 2019
Nidhan K Biswas1, Badal Dey, Partha P Majumder
1Human Genetics Unit, Indian Statistical Institute, Kolkata, West Bengal, India.
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.
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