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. Author manuscript; available in PMC: 2013 Jan 8.
Published in final edited form as: Genet Med. 2012 Sep 20;15(1):36–44. doi: 10.1038/gim.2012.112

FIGURE 3. Results of the manual review of variants selected by the informatics algorithm.

FIGURE 3

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 (see legend). Figure (A) shows all 906 unique variants, (B) shows the 392 rare truncating variants identified by the algorithm and (C) shows the 514 rare “DM” variants from HGMD. A higher proportion of “DM” variants in each bin category were removed from consideration compared to novel truncating variants.