Number of true genes identified as a function of proportion of pathogenic mutations that are type TSJ.

pTSJ: proportion of pathogenic mutations that are type TSJ; Np: number of pedigrees in stage I; Ns: number of individuals sequenced per pedigree in stage I. nTrue: number of true susceptibility genes passed to the validation in stage II; cost is in 100k USD.aCost does not vary with pTSJ, therefore the number should be equal to that for Filter = N1TS pTSJ = 0.5. Filters are described in Table 2.pTSJ：致病变异中TSJ型占比（proportion of pathogenic mutations that are type TSJ）；Np：第一阶段家系数量（number of pedigrees in stage I）；Ns：第一阶段单一家系的测序个体数（number of individuals sequenced per pedigree in stage I）；nTrue：第二阶段验证流程中纳入的真实易感基因数目（number of true susceptibility genes passed to the validation in stage II）；费用以10万美元为单位。aCost不随pTSJ变化，因此其数值应与Filter = N1TS且pTSJ = 0.5时的数值一致。筛选规则详见表2。