| Title: | Studying the impact of Neanderthal gene flow on human biology |
| Lead Institution: | Harvard Medical School |
| Principal investigator: | Professor David Reich |
Application 12408
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About
The project aims to understand the extent to which specific phenotypes are affected by Neandertal ancestry and to identify the genetic variants that affect these phenotypes. The project intends to analyze all quantitative traits and self-reported outcomes currently available as part of the UK Biobank. The proposed research attempts to discover novel genetic variants associated with disease risk and to reveal how these diseases evolved. We intend to analyze Neanderthal-informative SNPs that are on the array used to genotype individuals in the UK Biobank. These SNPs consists of: i) SNPs at which most humans carry the derived allele while Neanderthal is ancestral, ii) SNPs that were introduced due to Neanderthal gene flow. We intend to perform association analyses of these SNPs with phenotypes measured in the UK Biobank. This analysis is aimed at discovering novel genetic variants modulating disease risk and how these diseases evolved. A second set of analyses involves estimating the proportion of phenotypic variance explained by these classes of SNPs. Full cohort2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 7295 | The Contribution of Neanderthals to Phenotypic Variation in Modern Humans | Michael Dannemann (+1) | 2017 | American Journal of Human Genetics |
| 7906 | The lingering effects of Neanderthal introgression on human complex traits | Xinzhu Wei (+9) | 2023 | eLife |
Enabling scientific discoveries that improve human health