Figure 3.

Disease gene identification strategies for exome sequencing. The strategies (a–f) are detailed in the main text. Pedigrees indicate the inheritance model loosely underlying the strategy; filled symbols represent affected individuals, empty symbols represent presumably healthy individuals, and carriers are depicted by a symbol with a dot. Dashed rectangle encloses individuals that are exome sequenced. Circles below each pedigree symbolize sets of genetic variants identified in the exomes. Solid circles represent variants from affected individuals, whereas dashed circles represent variants from unaffected.