The distribution of highly deleterious variants across human ancestry groups.

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 consider whether this focus is warranted. We start from first principles considerations, based on models of mutation-drift-selection balance, which...

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