Article
Genotyping complex structural variation at the malaria-associated human glycophorin locus using a PCR-based strategy.
Annals of human genetics - 1 Jan 2021
Algady Walid, Weyell Eleanor, Mateja Daria, Garcia André, Courtin David, Hollox Edward J
Abstract excerpt
Structural variation in the human genome can affect risk of disease. An example is a complex structural variant of the human glycophorin gene cluster, called DUP4, which is associated with a clinically significant level of protection against severe malaria. The human glycophorin gene cluster harbours at least 23 distinct structural variants, and accurate genotyping of this complex structural variation remains a...
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