Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
A number of computational methods have been developed for calling structural variants (SVs) using short read sequencing data. Here, the authors perform a comprehensive benchmarking analysis comparing 10 general-purpose callers and provide recommendations for both users and methods developers.
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Nature Portfolio
2019
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oai:doaj.org-article:9ec25ab66cb34e718430dc5a5a47bc152021-12-02T17:02:02ZComprehensive evaluation and characterisation of short read general-purpose structural variant calling software10.1038/s41467-019-11146-42041-1723https://doaj.org/article/9ec25ab66cb34e718430dc5a5a47bc152019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11146-4https://doaj.org/toc/2041-1723A number of computational methods have been developed for calling structural variants (SVs) using short read sequencing data. Here, the authors perform a comprehensive benchmarking analysis comparing 10 general-purpose callers and provide recommendations for both users and methods developers.Daniel L. CameronLeon Di StefanoAnthony T. PapenfussNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-11 (2019) |
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Science Q |
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Science Q Daniel L. Cameron Leon Di Stefano Anthony T. Papenfuss Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
description |
A number of computational methods have been developed for calling structural variants (SVs) using short read sequencing data. Here, the authors perform a comprehensive benchmarking analysis comparing 10 general-purpose callers and provide recommendations for both users and methods developers. |
format |
article |
author |
Daniel L. Cameron Leon Di Stefano Anthony T. Papenfuss |
author_facet |
Daniel L. Cameron Leon Di Stefano Anthony T. Papenfuss |
author_sort |
Daniel L. Cameron |
title |
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
title_short |
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
title_full |
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
title_fullStr |
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
title_full_unstemmed |
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
title_sort |
comprehensive evaluation and characterisation of short read general-purpose structural variant calling software |
publisher |
Nature Portfolio |
publishDate |
2019 |
url |
https://doaj.org/article/9ec25ab66cb34e718430dc5a5a47bc15 |
work_keys_str_mv |
AT daniellcameron comprehensiveevaluationandcharacterisationofshortreadgeneralpurposestructuralvariantcallingsoftware AT leondistefano comprehensiveevaluationandcharacterisationofshortreadgeneralpurposestructuralvariantcallingsoftware AT anthonytpapenfuss comprehensiveevaluationandcharacterisationofshortreadgeneralpurposestructuralvariantcallingsoftware |
_version_ |
1718381986757738496 |