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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Detalles Bibliográficos
Autores principales: Daniel L. Cameron, Leon Di Stefano, Anthony T. Papenfuss
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
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Acceso en línea:https://doaj.org/article/9ec25ab66cb34e718430dc5a5a47bc15
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Descripción
Sumario: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.