To estimate the effective pool of common and rare sequence variants in the European population, we applied a ‘mark-recapture' approach (see Supplementary methods) to our data and that of the 1000 Genomes Project (v3.20101123)67 after appropriate checks on read depth and Sanger sequence validation (Supplementary Table S5; Supplementary Figure 9). The total number of DISC1 SNPs ⩾1% MAF was estimated at 905 (95%CI=905±5), of which 901 (99.5%) are known (Supplementary Table S6). The number of rare variants (<1% MAF) is less confidently predicted, but is likely to be substantially higher (95%CI=3777±252) (Supplementary Table S6). Thus, despite the ∼2500 European genomes in which the DISC1 locus has been completely sequenced and the 2305 rare DISC1 variants now known, ∼40% or more remain to be discovered, and will be essentially ‘private'.
