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. 2017 Jun 26;11:14. doi: 10.1186/s40246-017-0110-x

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© The Author(s). 2017

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 1 — Workflow for processing and analysis of samples in the validation design. PGM personal genome machine, VAF variant allele frequency, BAM bam file, VEP variant effect predictor