Deconstructing the sources of genotype-phenotype associations in humans

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 phe...

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Bibliographic Details
Published in:	Science (American Association for the Advancement of Science) 2019-09, Vol.365 (6460), p.1396-1400
Main Authors:	Young, Alexander I, Benonisdottir, Stefania, Przeworski, Molly, Kong, Augustine
Format:	Article
Language:	eng
Subjects:	Genetic Association Studies Genetics, Population Genome, Human Genome-Wide Association Study Humans Inheritance Patterns Models, Genetic Polymorphism, Single Nucleotide Principal Component Analysis
Online Access:	Get full text
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Summary:	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.
ISSN:	0036-8075 1095-9203