Deconstructing the sources of genotype-phenotype associations in humans
- 27 September 2019
- journal article
- review article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 365 (6460), 1396-1400
- https://doi.org/10.1126/science.aax3710
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.Funding Information
- National Institutes of Health (R01 GM121372)
- Li Ka Shing Foundation (N/A)
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