PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations

Abstract

Despite the tremendous growth of the DNA sequencing data in the last decade, our understanding of the human genome is still in its infancy. To understand the implications of genetic variants in the light of population genetics and molecular evolution, we developed a database, PGG.SNV (https://www.pggsnv.org), which gives much higher weight to previously under-investigated indigenous populations in Asia. PGG.SNV archives 265 million SNVs across 220,147 present-day genomes and 1018 ancient genomes, including 1009 newly sequenced genomes, representing 977 global populations. Moreover, estimation of population genetic diversity and evolutionary parameters is available in PGG.SNV, a unique feature compared with other databases. Keywords: Human diversity, Population genetics and genomics, Single nucleotide variations, Indigenous populations, Population prevalence, Variant annotation, Evolutionary conservation, Natural selection, Disease risk allele