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Human Disease Variation in the Light of Population Genomics

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  1. The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  2. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

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  3. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  4. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  5. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  1. A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

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  2. The Duffy-null genotype and risk of infection

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  3. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

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  4. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

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  5. Association between Mental Disorders and Subsequent Medical Conditions

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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
JournalCell
Volume177
Issue number1
Pages (from-to)115-131
Number of pages17
ISSN0092-8674
DOIs
Publication statusPublished - 21 Mar 2019

ID: 59035770