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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Autores principales: Daniel L. Cameron, Leon Di Stefano, Anthony T. Papenfuss
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/9ec25ab66cb34e718430dc5a5a47bc15
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle 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
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