PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Disease risk allele
Evolutionary conservation
Human diversity
Indigenous populations
Natural selection
Population genetics and genomics
Population prevalence
Single nucleotide variations
Variant annotation
Journal
Genome biology
ISSN: 1474-760X
Titre abrégé: Genome Biol
Pays: England
ID NLM: 100960660
Informations de publication
Date de publication:
22 10 2019
22 10 2019
Historique:
received:
25
04
2019
accepted:
26
09
2019
entrez:
24
10
2019
pubmed:
24
10
2019
medline:
31
12
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31640808
doi: 10.1186/s13059-019-1838-5
pii: 10.1186/s13059-019-1838-5
pmc: PMC6805450
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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