TY - JOUR
T1 - Human Disease Variation in the Light of Population Genomics
AU - Prohaska, Ana
AU - Racimo, Fernando
AU - Schork, Andrew J.
AU - Sikora, Martin
AU - Stern, Aaron J.
AU - Ilardo, Melissa
AU - Allentoft, Morten Erik
AU - Folkersen, Lasse
AU - Buil, Alfonso
AU - Moreno-Mayar, J. Víctor
AU - Korneliussen, Thorfinn
AU - Geschwind, Daniel
AU - Ingason, Andrés
AU - Werge, Thomas
AU - Nielsen, Rasmus
AU - Willerslev, Eske
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
U2 - 10.1016/j.cell.2019.01.052
DO - 10.1016/j.cell.2019.01.052
M3 - Review
C2 - 30901534
AN - SCOPUS:85062720353
VL - 177
SP - 115
EP - 131
JO - Cell
JF - Cell
SN - 0092-8674
IS - 1
ER -