Work

Deconstructing the sources of genotype-phenotype associations in humans

Year: 2019

Type: review

Abstract: Efforts to link variation in the human genome to phenotypes have progressed at a tremendous pace in recent decades. Most human traits have been shown to be affected by a large number of genetic variants across the genome. To interpret these associations and to use them reliably-in particular for phenotypic prediction-a better understanding of the many sources of genotype-phenotype associations is necessary. We summarize the progress that has been made in this direction in humans, notably in decomposing direct and indirect genetic effects as well as population structure confounding. We discuss the natural next steps in data collection and methodology development, with a focus on what can be gained by analyzing genotype and phenotype data from close relatives.

Source: Science

DOI: 10.1126/science.aax3710

Authors: Alexander I. Young, Stefania Benonisdottir, Molly Przeworski, Augustine Kong

Institutions: King's College London, University of Oxford, Columbia University

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Li Ka Shing Foundation, National Institutes of Health, National Institute of General Medical Sciences