Human Disease Variation in the Light of Population Genomics.
Journal
Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066
Informations de publication
Date de publication:
21 03 2019
21 03 2019
Historique:
received:
19
11
2018
revised:
23
01
2019
accepted:
29
01
2019
entrez:
23
3
2019
pubmed:
23
3
2019
medline:
14
2
2020
Statut:
ppublish
Résumé
Identifying the causes of similarities and differences in genetic disease prevalence among humans is central to understanding disease etiology. While present-day humans are not strongly differentiated, vast amounts of genomic data now make it possible to study subtle patterns of genetic variation. This allows us to trace our genomic history thousands of years into the past and its implications for the distribution of disease-associated variants today. Genomic analyses have shown that demographic processes shaped the distribution and frequency of disease-associated variants over time. Furthermore, local adaptation to new environmental conditions-including pathogens-has generated strong patterns of differentiation at particular loci. Researchers are also beginning to uncover the genetic architecture of complex diseases, affected by many variants of small effect. The field of population genomics thus holds great potential for providing further insights into the evolution of human disease.
Identifiants
pubmed: 30901534
pii: S0092-8674(19)30115-1
doi: 10.1016/j.cell.2019.01.052
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-131Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.