Kendig Katherine I, Baheti Saurabh, Bockol Matthew A, Drucker Travis M, Hart Steven N, Heldenbrand Jacob R, Hernaez Mikel, Hudson Matthew E, Kalmbach Michael T, Klee Eric W, Mattson Nathan R, Ross Christian A, Taschuk Morgan, Wieben Eric D, Wiepert Mathieu, Wildman Derek E, Mainzer Liudmila S
National Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana, IL, United States.
Department of Research Services, Mayo Clinic, Rochester, MN, United States.
Front Genet. 2019 Aug 20;10:736. doi: 10.3389/fgene.2019.00736. eCollection 2019.
As reliable, efficient genome sequencing becomes ubiquitous, the need for similarly reliable and efficient variant calling becomes increasingly important. The Genome Analysis Toolkit (GATK), maintained by the Broad Institute, is currently the widely accepted standard for variant calling software. However, alternative solutions may provide faster variant calling without sacrificing accuracy. One such alternative is Sentieon DNASeq, a toolkit analogous to GATK but built on a highly optimized backend. We conducted an independent evaluation of the DNASeq single-sample variant calling pipeline in comparison to that of GATK. Our results support the near-identical accuracy of the two software packages, showcase optimal scalability and great speed from Sentieon, and describe computational performance considerations for the deployment of DNASeq.
随着可靠、高效的基因组测序变得无处不在,对同样可靠且高效的变异检测的需求变得越来越重要。由布罗德研究所维护的基因组分析工具包(GATK),目前是变异检测软件中被广泛接受的标准。然而,其他解决方案可能在不牺牲准确性的情况下提供更快的变异检测。其中一种替代方案是Sentieon DNASeq,这是一个类似于GATK但基于高度优化的后端构建的工具包。我们对DNASeq单样本变异检测流程与GATK进行了独立评估。我们的结果支持这两个软件包的准确性近乎相同,展示了Sentieon的最佳可扩展性和高速度,并描述了部署DNASeq时的计算性能考量。