Figure 3

Results of the manual review of variants selected by the informatics algorithm. After individual review of the 906 unique variants returned by the final informatics algorithm, 45% were reassigned or removed from consideration. The graphs depict the variants initially selected within a given “bin” and the stacked segments represent the proportions of those variants that were confirmed, reassigned, or removed after review. (a) All 906 unique variants, (b) the 392 rare truncating variants identified by the algorithm, and (c) the 514 rare “DM” (disease mutation) variants from the Human Gene Mutation Database (HGMD). A higher proportion of “DM” variants in each bin category were removed from consideration as compared with novel truncating variants.