Article

The distribution of highly deleterious variants across human ancestry groups

2025-02-01

Abstract excerpt

A major focus of human genetics is to map severe disease mutations. Increasingly that goal is understood as requiring huge numbers of people to be sequenced from every broadly-defined genetic ancestry group, so as not to miss “ancestry-specific variants.” Here, we argue that this focus is unwarranted. We start with first principles considerations, based on models of mutation-drift-selection balance, which suggest...

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Literature Corpus work: 8e80b0fc-a79b-5544-a0c1-d6eb4cd74c96
DOI: 10.1101/2025.01.31.635988

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