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. 2019 Jul;29(7):1047–1056. doi: 10.1101/gr.239756.118

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© 2019 Kaplanis et al.; Published by Cold Spring Harbor Laboratory Press

This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International), as described at http://creativecommons.org/licenses/by/4.0/.

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Figure 3. — Quantifying the pathogenicity of MNVs. (A) Proportion of variants that fall in genes with pLI ≥ 0.9 over different classes of variants for both DDD and ExAC data sets. SNVs are green; MNVs, purple. Lines are 95% confidence intervals. (B) The median CADD score over different classes of variants identified from DDD data with bootstrapped 95% confidence intervals. (C) Singleton proportion for different classes of DDD variants. In yellow are SNVs stratified by binned CADD scores with their corresponding singleton proportions. Lines are 95% confidence intervals.