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Cell. 2019 Mar 21;177(1):115-131. doi: 10.1016/j.cell.2019.01.052.

Human Disease Variation in the Light of Population Genomics.

Author information

1
Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, UK; Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark.
2
Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark.
3
Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark; Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark; Institute of Biological Psychiatry, Mental Health Services Capital Region of Denmark, Copenhagen, Denmark.
4
Department of Integrative Biology, UC Berkeley, Berkeley, CA 94720, USA; Department of Statistics, UC Berkeley, Berkeley, CA 94720, USA.
5
Department of Integrative Biology, UC Berkeley, Berkeley, CA 94720, USA; Department of Statistics, UC Berkeley, Berkeley, CA 94720, USA; The University of Utah Molecular Medicine Program, University of Utah, Salt Lake City, UT 84132, USA.
6
Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark; Brain Research Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.
7
Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark; Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark; Institute of Biological Psychiatry, Mental Health Services Capital Region of Denmark, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address: Thomas.Werge@regionh.dk.
8
Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark; Department of Integrative Biology, UC Berkeley, Berkeley, CA 94720, USA; Department of Statistics, UC Berkeley, Berkeley, CA 94720, USA. Electronic address: rasmus_nielsen@berkeley.edu.
9
Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, UK; Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark. Electronic address: ewillerslev@snm.ku.dk.

Abstract

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.

PMID:
30901534
DOI:
10.1016/j.cell.2019.01.052
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