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Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

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. Ho...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710408/
https://www.ncbi.nlm.nih.gov/pubmed/31481971
http://dx.doi.org/10.3389/fgene.2019.00736
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author 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.
author_facet 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.
author_sort Kendig, Katherine I.
collection PubMed
description 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.
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spelling pubmed-67104082019-09-03 Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy 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. Front Genet Genetics 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. Frontiers Media S.A. 2019-08-20 /pmc/articles/PMC6710408/ /pubmed/31481971 http://dx.doi.org/10.3389/fgene.2019.00736 Text en Copyright © 2019 Kendig, Baheti, Bockol, Drucker, Hart, Heldenbrand, Hernaez, Hudson, Kalmbach, Klee, Mattson, Ross, Taschuk, Wieben, Wiepert, Wildman and Mainzer http://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Genetics
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.
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title_full Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title_fullStr Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title_full_unstemmed Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title_short Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
title_sort sentieon dnaseq variant calling workflow demonstrates strong computational performance and accuracy
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710408/
https://www.ncbi.nlm.nih.gov/pubmed/31481971
http://dx.doi.org/10.3389/fgene.2019.00736
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