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

Genome Biol. 2019 Oct 22;20(1):215. doi: 10.1186/s13059-019-1838-5.

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: Disease risk allele; Evolutionary conservation; Human diversity; Indigenous populations; Natural selection; Population genetics and genomics; Population prevalence; Single nucleotide variations; Variant annotation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Databases, Genetic*
  • Disease / genetics*
  • Evolution, Molecular
  • Gene Frequency
  • Genetic Variation
  • Genome, Human*
  • Humans
  • Indigenous Peoples / genetics
  • Polymorphism, Single Nucleotide*