Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1782277042217156608 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3712217 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT yostshawne mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT alakushakan mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT matsuihiroko mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT schwabrichardb mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT jepsenkristen mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT frazerkellya mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing AT harismendyolivier mutascopesensitivedetectionofsomaticmutationsfromdeepampliconsequencing |