Consanguinity, human evolution, and complex diseases

By A. Bittles, M. Black. Proceedings of the National Academy of Sciences of the United States of America, 2010

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Evaluating drug targets through human loss-of-function genetic variation (2019, positive): “True LoF variants are generally rare, and show important differences between outbred, bottlenecked 8 , and consanguineous 9 populations 6,10 .”
Inbreeding and runs of homozygosity: A possible solution to an old problem (2014, background): “Even the earliest human civilizations were aware of the negative consequences of inbreeding, based on their observations of breeding in domestic animal populations, though precise attitudes towards inbreeding vary across religions and continents (Bittles and Black, 2010).”
Large-scale whole-genome sequencing of three diverse Asian populations in Singapore (2018, neutral): “We note that Central and South Asian populations in HGDP are mainly from Pakistan, which historically received substantial gene flow from Central Asia and western Eurasia.44,45 These results reflect the limitation of the SG10K panel in capturing the vast population-genetic diversity in Central Asia.”