Seventeen coding RVs observed in the sequencing stage were selected to be genotyped in the 1520 subjects for validation and in another 6751 subjects for follow up. The criteria for selecting these RVs were: first, MAFs less than or equal to 1% in both EAs and AAs; second, location in coding regions or introns within 5 bp of a splice junction; third, the variants were in at least three more case pools than control pools, or vice versa, in the sequencing stage. Eleven of the 17 RVs were successfully genotyped using the TaqMan method.
