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Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing

Summary: We present Mutascope, a sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimen. Using datasets reproducing tumor genetic heterogeneity, we...

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Detalles Bibliográficos
Autores principales: Yost, Shawn E., Alakus, Hakan, Matsui, Hiroko, Schwab, Richard B., Jepsen, Kristen, Frazer, Kelly A., Harismendy, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712217/
https://www.ncbi.nlm.nih.gov/pubmed/23712659
http://dx.doi.org/10.1093/bioinformatics/btt305
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author Yost, Shawn E.
Alakus, Hakan
Matsui, Hiroko
Schwab, Richard B.
Jepsen, Kristen
Frazer, Kelly A.
Harismendy, Olivier
author_facet Yost, Shawn E.
Alakus, Hakan
Matsui, Hiroko
Schwab, Richard B.
Jepsen, Kristen
Frazer, Kelly A.
Harismendy, Olivier
author_sort Yost, Shawn E.
collection PubMed
description Summary: We present Mutascope, a sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimen. Using datasets reproducing tumor genetic heterogeneity, we demonstrate that Mutascope has a higher sensitivity and generates fewer false-positive calls than tools designed for shotgun sequencing or diploid genomes. Availability: Freely available on the web at http://sourceforge.net/projects/mutascope/. Contact: oharismendy@ucsd.edu Supplementary information: Supplementary data are available at Bioinformatics online.
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spelling pubmed-37122172013-07-17 Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing Yost, Shawn E. Alakus, Hakan Matsui, Hiroko Schwab, Richard B. Jepsen, Kristen Frazer, Kelly A. Harismendy, Olivier Bioinformatics Applications Notes Summary: We present Mutascope, a sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimen. Using datasets reproducing tumor genetic heterogeneity, we demonstrate that Mutascope has a higher sensitivity and generates fewer false-positive calls than tools designed for shotgun sequencing or diploid genomes. Availability: Freely available on the web at http://sourceforge.net/projects/mutascope/. Contact: oharismendy@ucsd.edu Supplementary information: Supplementary data are available at Bioinformatics online. Oxford University Press 2013-08-01 2013-05-27 /pmc/articles/PMC3712217/ /pubmed/23712659 http://dx.doi.org/10.1093/bioinformatics/btt305 Text en © The Author 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Applications Notes
Yost, Shawn E.
Alakus, Hakan
Matsui, Hiroko
Schwab, Richard B.
Jepsen, Kristen
Frazer, Kelly A.
Harismendy, Olivier
Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title_full Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title_fullStr Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title_full_unstemmed Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title_short Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
title_sort mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712217/
https://www.ncbi.nlm.nih.gov/pubmed/23712659
http://dx.doi.org/10.1093/bioinformatics/btt305
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