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Article
Open AccessRare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
Infertility in men and women is a complex genetic trait with shared biological bases between the sexes. Here, we perform a series of rare variant analyses across 73,185 women and men to identify genes that con...
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Article
Evolutionary genetics of the human Rh blood group system
The evolutionary history of variation in the human Rh blood group system, determined by variants in the RHD and RHCE genes, has long been an unresolved puzzle in human genetics. Prior to medical treatments and in...
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Article
Diet and the evolution of human amylase gene copy number variation
Starch consumption is a prominent characteristic of agricultural societies and hunter-gatherers in arid environments. In contrast, rainforest and circum-arctic hunter-gatherers and some pastoralists consume mu...