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Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads
Motivation: Methods for detecting somatic genome rearrangements in tumours using next-generation sequencing are vital in cancer genomics. Available algorithms use one or more sources of evidence, such as read depth, paired-end reads or split reads to predict structural variants. However, the problem...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982158/ https://www.ncbi.nlm.nih.gov/pubmed/24389656 http://dx.doi.org/10.1093/bioinformatics/btt767 |
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author | Schröder, Jan Hsu, Arthur Boyle, Samantha E. Macintyre, Geoff Cmero, Marek Tothill, Richard W. Johnstone, Ricky W. Shackleton, Mark Papenfuss, Anthony T. |
author_facet | Schröder, Jan Hsu, Arthur Boyle, Samantha E. Macintyre, Geoff Cmero, Marek Tothill, Richard W. Johnstone, Ricky W. Shackleton, Mark Papenfuss, Anthony T. |
author_sort | Schröder, Jan |
collection | PubMed |
description | Motivation: Methods for detecting somatic genome rearrangements in tumours using next-generation sequencing are vital in cancer genomics. Available algorithms use one or more sources of evidence, such as read depth, paired-end reads or split reads to predict structural variants. However, the problem remains challenging due to the significant computational burden and high false-positive or false-negative rates. Results: In this article, we present Socrates (SOft Clip re-alignment To idEntify Structural variants), a highly efficient and effective method for detecting genomic rearrangements in tumours that uses only split-read data. Socrates has single-nucleotide resolution, identifies micro-homologies and untemplated sequence at break points, has high sensitivity and high specificity and takes advantage of parallelism for efficient use of resources. We demonstrate using simulated and real data that Socrates performs well compared with a number of existing structural variant detection tools. Availability and implementation: Socrates is released as open source and available from http://bioinf.wehi.edu.au/socrates. Contact: papenfuss@wehi.edu.au Supplementary information: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-3982158 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-39821582014-05-14 Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads Schröder, Jan Hsu, Arthur Boyle, Samantha E. Macintyre, Geoff Cmero, Marek Tothill, Richard W. Johnstone, Ricky W. Shackleton, Mark Papenfuss, Anthony T. Bioinformatics Original Papers Motivation: Methods for detecting somatic genome rearrangements in tumours using next-generation sequencing are vital in cancer genomics. Available algorithms use one or more sources of evidence, such as read depth, paired-end reads or split reads to predict structural variants. However, the problem remains challenging due to the significant computational burden and high false-positive or false-negative rates. Results: In this article, we present Socrates (SOft Clip re-alignment To idEntify Structural variants), a highly efficient and effective method for detecting genomic rearrangements in tumours that uses only split-read data. Socrates has single-nucleotide resolution, identifies micro-homologies and untemplated sequence at break points, has high sensitivity and high specificity and takes advantage of parallelism for efficient use of resources. We demonstrate using simulated and real data that Socrates performs well compared with a number of existing structural variant detection tools. Availability and implementation: Socrates is released as open source and available from http://bioinf.wehi.edu.au/socrates. Contact: papenfuss@wehi.edu.au Supplementary information: Supplementary data are available at Bioinformatics online. Oxford University Press 2014-04-15 2014-01-02 /pmc/articles/PMC3982158/ /pubmed/24389656 http://dx.doi.org/10.1093/bioinformatics/btt767 Text en © The Author 2014. 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 | Original Papers Schröder, Jan Hsu, Arthur Boyle, Samantha E. Macintyre, Geoff Cmero, Marek Tothill, Richard W. Johnstone, Ricky W. Shackleton, Mark Papenfuss, Anthony T. Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title | Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title_full | Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title_fullStr | Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title_full_unstemmed | Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title_short | Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
title_sort | socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads |
topic | Original Papers |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982158/ https://www.ncbi.nlm.nih.gov/pubmed/24389656 http://dx.doi.org/10.1093/bioinformatics/btt767 |
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