| Title: | Exploring the effects of genome structural variation on human health and disease |
| Lead Institution: | Broad Institute |
| Principal investigator: | Dr Po-Ru Loh |
Application 40709
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About
Genetic variation is known to be an important contributor to nearly all health-related traits. However, the precise genetic variants that affect most diseases and traits are largely unknown, in part because many forms of genetic variation are difficult to ascertain. We will analyze a particular class of understudied genetic variants known as structural variants, which affect large segments of DNA. We will develop methods for detecting these variants in UK Biobank genotyping data, and we will then examine their effects on a broad spectrum of health-related traits by studying UK Biobank genotype and phenotype data for N=500,000 individuals. For variants of particular interest, we will further investigate how these variants have been passed down across generations. We anticipate that this multi-year project will identify many genome structural variants likely to have causal effects on health-related traits (e.g., diabetes, cardiovascular disease, and cancer).5 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 12782 | A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation | Nolan Kamitaki (+5) | 2024 | Nature Genetics |
| 10527 | Influences of rare copy-number variation on human complex traits | Margaux L A Hujoel (+6) | 2022 | Cell |
| 10015 | Protein-altering variants at copy number-variable regions influence diverse human phenotypes | Margaux L. A. Hujoel (+8) | 2024 | Nature Genetics |
| 7337 | Protein-coding repeat polymorphisms strongly shape diverse human phenotypes | Ronen E Mukamel (+6) | 2021 | Science |
| 7706 | Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer | Ronen E Mukamel (+6) | 2023 | Cell |
Enabling scientific discoveries that improve human health