Individuals included in the study were living within England, Scotland and Wales (‘Great Britain’) and the vast majority had self-identified themselves as white Europeans (153 individuals with non-Caucasian ancestry were excluded from final analysis—see below). The seven conditions selected for study are all common familial diseases of major public health importance both in the UK and globally4, and for which suitable nationally representative sample sets were available. The control individuals came from two sources: 1,500 individuals from the 1958 British Birth Cohort (58C) and 1,500 individuals selected from blood donors recruited as part of this project (UK Blood Services (UKBS) controls). See Methods and Supplementary Table 1 for sample recruitment, phenotypes and summary details for each collection.
