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. 2018 Apr 16;50:17. doi: 10.1186/s12711-018-0390-1

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© The Author(s) 2018

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — Allele frequency distribution for different functional classes of putative deleterious variants. Deleterious variants (deleterious missense and stop-gained) show distinct allele frequency spectra compared to variants considered to be neutral (synonymous, missense tolerated). Missense variants are classified by SIFT (deleterious: SIFT score ≤ 0.05, tolerated: SIFT score > 0.05)