To illustrate the utility of ANNOVAR in identifying causal genes for Mendelian diseases with dominant inheritance, we synthesized whole-exome data sets. Since exome data for four Freeman–Sheldon cases were not available to us, we downloaded the exome data for eight HapMap subjects reported in (11). We then extracted the exome data for the first four subjects, including two Yoruba subjects (NA18507, NA18517) and two European Americans (NA12156 and NA12878). We next added the four known causal mutations to each of the four HapMap subjects (three C–>T mutations at chr17:10485359 and one C–>T mutation at chr17:10485360, representing R672H and R672C mutations in MYH3). We tested whether ANNOVAR can identify MYH3 as the causal gene by examining exomes from these four subjects.
