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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.

Original publication

DOI

10.1126/science.aax3710

Type

Journal article

Journal

Science (New York, N.Y.)

Publication Date

09/2019

Volume

365

Pages

1396 - 1400

Addresses

Big Data Institute, Li Ka Shing Centre for Health Information Discovery, University of Oxford, Oxford, UK. alextisyoung@gmail.com mp3284@columbia.edu augustine.kong@bdi.ox.ac.uk.

Keywords

Humans, Genetics, Population, Inheritance Patterns, Polymorphism, Single Nucleotide, Genome, Human, Principal Component Analysis, Models, Genetic, Genome-Wide Association Study, Genetic Association Studies