Fig. 1.

Overview of the sequencing study. A total of 2872 controls and 4016 cases (1346 individuals with age of onset < 40 years) for type 2 diabetes were sequenced using pools of 20 (Stage 1) and 24 (Stage 2) individuals. To validate rare functional variants and to identify the carriers of rare coding variants, 2014 cases selected from Stage 1 and 2 were sequenced again in Stage 3. The resulting variant data was analyzed to perform gene-level burden tests and compare the frequency of protein truncating variants and known pathogenic missense variants in monogenic diabetes genes between the case and control groups