| Title: | Deconstructing the sources of genotype-phenotype associations in humans |
| Journal: | Science |
| Published: | 27 Sep 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/31604265/ |
| DOI: | https://doi.org/10.1126/science.aax3710 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/6894903 |
| Citations: | 194 (79 in last 2 years) as of 8 Aug 2024 |
Publication 4630
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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.</p>
9 Keywords
- Genetic Association Studies
- Genetics, Population
- Genome, Human
- Genome-Wide Association Study
- Humans
- Inheritance Patterns
- Models, Genetic
- Polymorphism, Single Nucleotide
- Principal Component Analysis
4 Authors
- Alexander I Young
- Stefania Benonisdottir
- Molly Przeworski
- Augustine Kong
Enabling scientific discoveries that improve human health