Principal Investigator: Professor David Reich
Harvard Medical School, Genetics, 77 Avenue Louis Pasteur, NRB 260, Boston MA 02115, United StatesTags: 12408, Introgression, Neandertal, Phenotypic impact
1a: 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.
1b: The proposed research attempts to discover novel genetic variants associated with disease risk and to reveal how these diseases evolved.
1c: 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.
1d: Full cohort
Project extension details:
We would like the ICD-10 codes for diagnoses. The reason for this request is twofold:
1. We find several significant associations of Neanderthal SNPs with self-reported phenotypes and would like to ensure that the association is robust to how the phenotype was reported.
2. We would also like to replicate the associations from a recent study by Simonti et al. Science 2016 that found Neanderthal SNPs associated with phenotypes defined based on ICD codes. Having ICD codes would give us a direct means of replicating the results from this study.