Table 1 UK patient and population-based studies available for RbG studies
From: Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Study | Sample size | Local phenotypic expertise | Patient group/ population sample |
|---|---|---|---|
The Avon Longitudinal Study of Parents and Children (ALSPAC) | ~9000 (mother child duos) & ~2000 trios. Smaller number of children of index participants (third gen) | Lifecourse epidemiology—birth cohort (‘complete’ phenotyping) | Population-based cohort |
East London Genes & Health (ELGH) | 26,476 (at Nov. 2017, actively recruiting, total sample size 100 k) | Human knockouts, primary care e-health records, diabetes and cardiovascular | Population-based cohort (Bangladeshi and Pakistani ethnicity, age > 16) |
EXtended Cohort for E-health, Environment and DNA (EXCEED) | Over 9300 recruits to date; recruitment planned to continue to 10,000 | Cardiovascular, respiratory, renal, metabolic, infectious disease and cancer | Population-based cohort (aged 30–69) |
Exeter 10,000 (EXTEND) | 10,000 | Type 2 diabetes, ischaemic heart disease, vascular function and healthy ageing | Population-based sample (based in Exeter; enriched for patients with diabetes; aged > 18) |
Genetics of Diabetes and Audit Research Tayside Study (GoDARTS) | 9439 cases and 8187 controls | Complete EMR linkage, type 2 diabetes, heart disease, asthma and cancer | Case−control cohort |
INTERVAL | 50,000 | >6000 molecular phenotypes, including serum NMR metabolomics, plasma MS lipidomics and metabolomics, plasma proteomics, Sysmex FBC, hepcidin and others | Population-based sample of healthy blood donors |
National Centre for Mental Health | Over 10,000 | Mental health conditions | Population-based cohort (variety of mental health conditions; all ages; primarily Wales-based) |
The Oxford Biobank | 7900 | Metabolic and anthropometric, obesity | Random, population-based sample of healthy 30–50-year-old men and women (Oxfordshire) |
Scottish Health Research Register (SHARE) | 50,000 samples obtained. 155,000 consented for spare blood interception | Complete EMR linkage. Type 2 diabetes, heart disease, asthma and cancer. Mobile App Patient Reported Outcomes. | Population-based cohort |
Generation Scotland: Scottish Family Health Study (GS:SFHS) | 20,032 | Complete EHR linkage, urinary traits and kidney disease, eye phenotypes, family based data analysis | Family-based population cohort |
