Human Disease Variation in the Light of Population Genomics

Ana Prohaska, Fernando Racimo, Andrew J. Schork, Martin Sikora, Aaron J. Stern, Melissa Ilardo, Morten Erik Allentoft, Lasse Folkersen, Alfonso Buil, J. Víctor Moreno-Mayar, Thorfinn Korneliussen, Daniel Geschwind, Andrés Ingason, Thomas Werge, Rasmus Nielsen, Eske Willerslev

Research output: Contribution to journalReview articlepeer-review

52 Scopus citations


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.

Original languageEnglish
Pages (from-to)115-131
Number of pages17
Issue number1
StatePublished - 21 Mar 2019
Externally publishedYes


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