Abstract:
:We present a new method, Fine-Mapping of Adaptive Variation (FineMAV), which combines population differentiation, derived allele frequency, and molecular functionality to prioritize positively selected candidate variants for functional follow-up. We calibrate and test FineMAV using eight experimentally validated "gold standard" positively selected variants and simulations. FineMAV has good sensitivity and a low false discovery rate. Applying FineMAV to the 1000 Genomes Project Phase 3 SNP dataset, we report many novel selected variants, including ones in TGM3 and PRSS53 associated with hair phenotypes that we validate using available independent data. FineMAV is widely applicable to sequence data from both human and other species.
journal_name
Genome Bioljournal_title
Genome biologyauthors
Szpak M,Mezzavilla M,Ayub Q,Chen Y,Xue Y,Tyler-Smith Cdoi
10.1186/s13059-017-1380-2subject
Has Abstractpub_date
2018-01-17 00:00:00pages
5issue
1eissn
1474-7596issn
1474-760Xpii
10.1186/s13059-017-1380-2journal_volume
19pub_type
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