Prioritising positively selected variants in whole-genome sequencing data using FineMAV.
Fadilla WahyudiFarhang AghakhanianSadequr RahmanYik-Ying TeoMichał SzpakJasbir DhaliwalQasim AyubPublished in: BMC bioinformatics (2021)
The software tool described here determines genome-wide FineMAV scores, using low or high-coverage whole-genome sequencing datasets, that can be used to prioritize a list of population specific, highly differentiated candidate variants for in vitro or in vivo functional screens. The tool displays these scores on the human genome browsers for easy visualisation, annotation and comparison between different genomic regions in worldwide human populations.