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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 1. Selection of variants based on allele frequency and predicted effect on the translated protein.

FIGURE 1

(A) The initial informatics analysis resulted in an average of ~13,000 variants per person in Bin 1 genes, ~175,000 variants per person in Bin 2b genes, and ~9000 variants per person in Bin 2c genes. (B) Limiting these variants to <5% AF or <1% AF reduces these counts ~10–15 fold, respectively. (C) Restricting to protein-coding variants (missense, nonsense, frameshift, splice site) at <5% AF results in ~10 variants per person in Bin 1 genes and 100–200 variants per person in Bin 2b genes. At <1% AF there were ~5 variants per person in bin 1 genes and 50–100 variants per person in Bin 2b genes. (D) Restricting only to truncating variants (nonsense, frameshift, splice site) results in only a small number of variants to be analyzed by the reviewer. Interestingly, the AF cut-off (<5% vs. <1%) does not dramatically affect the number of truncating variants that are selected.