sv-callers: a highly portable parallel workflow for structural variant detection in whole-genome sequence data

Structural variants (SVs) are an important class of genetic variation implicated in a wide array of genetic diseases including cancer. Despite the advances in whole genome sequencing, comprehensive and accurate detection of SVs in short-read data still poses some practical and computational challeng...

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Detalles Bibliográficos
Autores principales: Kuzniar, Arnold, Maassen, Jason, Verhoeven, Stefan, Santuari, Luca, Shneider, Carl, Kloosterman, Wigard P., de Ridder, Jeroen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2020
Materias:
Bioinformatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951283/
https://www.ncbi.nlm.nih.gov/pubmed/31934500
http://dx.doi.org/10.7717/peerj.8214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951283/
https://www.ncbi.nlm.nih.gov/pubmed/31934500
http://dx.doi.org/10.7717/peerj.8214

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