To examine the utility of ANNOVAR on identifying genes for autosomal dominant diseases, we next simulated the analysis presented in a study that sequenced eight exomes from HapMap subjects and four exomes from patients with Freeman–Sheldon syndrome (11). The full list of variants from eight HapMap exomes has been made publicly available, and the identity of four causal variants were presented in the original manuscript. Therefore, we synthesized four exome data sets, by taking four HapMap exomes and supplementing each with a known causal mutation for the Freeman–Sheldon syndrome. Each exome data set contains from 16 134 to 19 960 exonic variants. We next examined whether the variants reduction procedure can confidently identify the causal gene (MYH3) from the four exomes.
