The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from ~24,000 adult volunteers across Scotland. Although data collection was cross-sectional, GS:SFHS became a prospective cohort due to the ability to link to routine Electronic Health Record (EHR) data. Over 20,000 participants were selected for genotyping using a genome-wide array. Genome-wide association studies (GWAS) were used to test the effects of a spectrum of variants, imputed using the Haplotype Research Consortium (HRC) dataset, on medically relevant traits measured directly or obtained from EHRs. The HRC dataset allowed investigation of variants with low minor allele frequencies in the entire GS:SFHS genotyped cohort. Genome-wide associations were run on 20,032 individuals using both genotyped and HRC imputed data. Results replicated known associations and additionally revealed novel findings, mainly with rare variants. The dataset contains genome-wide association summary statistics for this project. The other 11 data files can be found here: http://datashare.is.ed.ac.uk/handle/10283/2789
Nagy, Reka; Boutin, Thibaud; Marten, Jonathan; Hayward, Caroline. (2019). Dataset 2 pertaining to the publication "Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants", [dataset]. University of Edinburgh. MRC Human Genetics Unit. https://doi.org/10.7488/ds/2602.
|Date made available||14 Aug 2019|
|Geographical coverage||UK,UNITED KINGDOM,Scotland|