UK Biobank

Recruitment of ~500,000 UK adults with questionnaire and physical measures; genome-wide array genotyping on the full cohort underpins most early GWAS and PRS applications.

Linkage to hospital episode statistics, death registers, primary-care and cancer data; repeated web/verbal questionnaires and in-person follow-ups deepen longitudinal phenotyping for PheWAS and risk modelling.

NMR metabolomics, Olink/SomaScan proteomics, and multimodal imaging (e.g. brain, cardiac, body composition) in large subsets; sample sizes differ by assay and enrich multi-trait and pathway analyses.

Large-scale exome sequencing released in tranches; enables rare-coding variant association, gene-based tests, and integration with array/WGS layers on overlapping participants.

WGS on a large fraction of participants supports CNV analysis, short-variant refinement, and single-sample graph workflows; companion GWAS products (e.g. Pan-UKB) extend array-based analyses across ancestries.

Family-based GWAS (FGWAS) summary statistics estimating direct genetic effects (DGEs) with unified, robust, Young et al. Mendelian-imputation, and sib-difference estimators implemented in snipar. Unified estimator adds singletons via linear parental imputation (largest DGE effective sample size in homogeneous samples); robust estimator avoids allele-frequency imputation bias under strong structure or admixture. UK Biobank application (n up to ~408k unified White British; ~52k robust with ≥1 genotyped first-degree relative).