Germline selection shapes human mitochondrial DNA diversity
(2019)
Journal Article
Wei, W., Tuna, S., Keogh, M. J., Smith, K. R., Aitman, T. J., Beales, P. L., …Chinnery, P. F. (2019). Germline selection shapes human mitochondrial DNA diversity. Science, 364(6442), Article eaau6520. https://doi.org/10.1126/science.aau6520
INTRODUCTION
Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population...
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