Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration
Jun He,
Si Hoi Kou,
Jiaheng Li
et al.
Abstract:IntroductionThe DNA damage repair (DDR) system in human genome is pivotal in maintaining genomic integrity. Pathogenic variation (PV) in DDR genes impairs their function, leading to genome instability and increased susceptibility to diseases, especially cancer. Understanding the evolution origin and arising time of DDR PV is crucial for comprehending disease susceptibility in modern humans.MethodsWe used big data approach to identify the PVs in DDR genes in modern humans. We mined multiple genomic databases de… Show more
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