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. 2019 Jan 31;10:7. doi: 10.3389/fgene.2019.00007

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Copyright © 2019 Klein, Tremmel, Winter, Fehr, Battke, Scheurenbrand, Schaeffeler, Biskup, Schwab and Zanger.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Prediction of coding variant effects. (A) Comparison of loss-of-function (LOF) and tolerable (TOL) predictions obtained by three different prediction tools. Venn diagrams are shown for “LOF” and “TOL” predictions for n = 4,017 coding variants from Provean (“deleterious”), SIFT (“damaging”), Polyphen2 (PP2; “probably/possibly damaging”). (B) Occurrence of TOL and LOF variants in gene family groups. The distribution of the number of concordant TOL (n = 1,019; blue colored) and LOF (n = 1,466; red colored) predictions is shown for the indicated gene groups for known (filled bars) and novel (hatched bars) variants. Upper chart: variants with MAF ≥ 2%; lower chart: variants with MAF < 2%. (C) Top LOF-variant carrier genes. Shown are genes with at least seven predicted LOF-variants.