Variant calling on GRCh38 with the Gambian Genome Variation Project (GGVP) samples

We present biallelic SNVs called from 505 samples accross 4 different Gambian populations from the Gambian Genome Variation Project, called directly against GRCh38. The purpose of the project is to support the discovery and understanding of genetic variants that influence human disease. Specifically defined goals are (a) the discovery of single nucleotide variants at frequencies of 1% or higher in diverse populations, (b) even more comprehensive discovery (variants down to frequencies of 0.1 - 0.5%) in functional gene regions, and (c) discovery of structural variants, such as copy number variants, other insertions and deletions, and inversions, including sequence-level understanding of breakpoints.