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. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8

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© Miller et al. 2015

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. 4 — Comparison of the number and rate of true positive variant calls with GSNAP/GATK-VQSR and DRAGEN. The three samples and reference datasets are as in Tables 1 and 2. Numbers are variant calls. TP: Variants in the NA12878 CDC/GeT-RM clinical validation set in which true positive variant calls were made. %TP variants in the larger NIST/GIAB reference set were similar to those in the GeT-RM set (NA12878-essex, DRAGEN only 92.3 % of 143,385 TP, GATK only 19.8 % of 96,003 TP; NA12878-Gill, DRAGEN only 98.0 % of 1,335,504 TP, GATK only 91.8 % of 58,571 TP)