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How well do we understand the basis of classic selective sweeps in humans?
Author(s) -
Szpak Michał,
Xue Yali,
Ayub Qasim,
TylerSmith Chris
Publication year - 2019
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1002/1873-3468.13447
Subject(s) - phenotype , selective sweep , selection (genetic algorithm) , population , positive selection , evolutionary biology , gold standard (test) , biology , computer science , genetics , gene , artificial intelligence , medicine , genotype , environmental health , haplotype
Classic selective sweeps occur when positive selection increases a variant's frequency from low to high in a population, and underlie some long‐studied human characteristics such as variation in skin, hair or eye colour. In such well‐studied ‘gold standard’ examples, a known variant has been associated with a plausible phenotype and underlying selective force. Signatures of classic sweeps have more recently been detected in population‐genetic data independently of any prior information about the corresponding phenotype or selective force, and usually without suggesting any insights into these. Motivated by the need to understand such candidates, we first review the gold standards and show that our understanding of them is often incomplete or unconvincing; only two of the examples we consider are compellingly explained. We assess approaches for large‐scale association of classic sweep candidate variants to phenotypes and selective forces, test these on the gold standards, and discuss the standards of evidence needed to adequately understand a selective sweep.