Fig. 1

Workflow for prioritization of positively selected candidate variants for functional studies. The DNA molecule is represented as a blue line, with variants being red dots. Identification of the candidate positively selected variants from the genome-wide variation data, or the refinement of the known signal of selection to a functional SNP, is achieved by overlapping the statistical support from genetic analyses with functional annotation (implemented in FineMAV). A detailed follow-up functional study can then be performed (in vitro or in vivo experiments using model systems) to validate the implicated variant, quantify its phenotypic consequences, and clarify its relationship with reproductive fitness, e.g. by assessment of phenotypic differences between mouse models carrying the human-selected and non-selected alleles