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. Author manuscript; available in PMC: 2018 Apr 4.
Published in final edited form as: Genet Med. 2018 Jan 4;20(3):351–359. doi: 10.1038/gim.2017.218

Figure 2. Derivation of allele frequency thresholds for rules BA1 and BS1.

Figure 2

Disease prevalence = 1/200 individuals (1/400 chromosomes). Penetrance = 30%. % gene contribution = 10.6%. % maximum pathogenic variant contribution (max path. variant) = 2%.