Fig. 1.

Study design.

Of 5083 ALSPAC samples with lipids measured at the age of nine years, 1497 were successfully sequenced as part of the UK10K project. 55 of these, selected by stratified random sampling from each LDL-C quartile, underwent targeted sequencing (LDLR, APOB, PCSK9, LDLRAP1) together with 15 samples from children with LDL-C>1.84 MoM or TC > 1.53 MoM. Six FH-causing mutations were identified. Six samples failed NGS sequencing.