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BatAlign: an incremental method for accurate alignment of sequencing reads
Structural variations (SVs) play a crucial role in genetic diversity. However, the alignments of reads near/across SVs are made inaccurate by the presence of polymorphisms. BatAlign is an algorithm that integrated two strategies called ‘Reverse-Alignment’ and ‘Deep-Scan’ to improve the accuracy of r...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652746/ https://www.ncbi.nlm.nih.gov/pubmed/26170239 http://dx.doi.org/10.1093/nar/gkv533 |
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author | Lim, Jing-Quan Tennakoon, Chandana Guan, Peiyong Sung, Wing-Kin |
author_facet | Lim, Jing-Quan Tennakoon, Chandana Guan, Peiyong Sung, Wing-Kin |
author_sort | Lim, Jing-Quan |
collection | PubMed |
description | Structural variations (SVs) play a crucial role in genetic diversity. However, the alignments of reads near/across SVs are made inaccurate by the presence of polymorphisms. BatAlign is an algorithm that integrated two strategies called ‘Reverse-Alignment’ and ‘Deep-Scan’ to improve the accuracy of read-alignment. In our experiments, BatAlign was able to obtain the highest F-measures in read-alignments on mismatch-aberrant, indel-aberrant, concordantly/discordantly paired and SV-spanning data sets. On real data, the alignments of BatAlign were able to recover 4.3% more PCR-validated SVs with 73.3% less callings. These suggest BatAlign to be effective in detecting SVs and other polymorphic-variants accurately using high-throughput data. BatAlign is publicly available at https://goo.gl/a6phxB. |
format | Online Article Text |
id | pubmed-4652746 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-46527462015-11-25 BatAlign: an incremental method for accurate alignment of sequencing reads Lim, Jing-Quan Tennakoon, Chandana Guan, Peiyong Sung, Wing-Kin Nucleic Acids Res Methods Online Structural variations (SVs) play a crucial role in genetic diversity. However, the alignments of reads near/across SVs are made inaccurate by the presence of polymorphisms. BatAlign is an algorithm that integrated two strategies called ‘Reverse-Alignment’ and ‘Deep-Scan’ to improve the accuracy of read-alignment. In our experiments, BatAlign was able to obtain the highest F-measures in read-alignments on mismatch-aberrant, indel-aberrant, concordantly/discordantly paired and SV-spanning data sets. On real data, the alignments of BatAlign were able to recover 4.3% more PCR-validated SVs with 73.3% less callings. These suggest BatAlign to be effective in detecting SVs and other polymorphic-variants accurately using high-throughput data. BatAlign is publicly available at https://goo.gl/a6phxB. Oxford University Press 2015-09-18 2015-07-13 /pmc/articles/PMC4652746/ /pubmed/26170239 http://dx.doi.org/10.1093/nar/gkv533 Text en © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Methods Online Lim, Jing-Quan Tennakoon, Chandana Guan, Peiyong Sung, Wing-Kin BatAlign: an incremental method for accurate alignment of sequencing reads |
title | BatAlign: an incremental method for accurate alignment of sequencing reads |
title_full | BatAlign: an incremental method for accurate alignment of sequencing reads |
title_fullStr | BatAlign: an incremental method for accurate alignment of sequencing reads |
title_full_unstemmed | BatAlign: an incremental method for accurate alignment of sequencing reads |
title_short | BatAlign: an incremental method for accurate alignment of sequencing reads |
title_sort | batalign: an incremental method for accurate alignment of sequencing reads |
topic | Methods Online |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652746/ https://www.ncbi.nlm.nih.gov/pubmed/26170239 http://dx.doi.org/10.1093/nar/gkv533 |
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