XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

BACKGROUND: We developed a novel software package, XCAVATOR, for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments. RESULTS: By using simulated and real datasets we showed that our tool, based...

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Detalles Bibliográficos
Autores principales: Magi, Alberto, Pippucci, Tommaso, Sidore, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609061/
https://www.ncbi.nlm.nih.gov/pubmed/28934930
http://dx.doi.org/10.1186/s12864-017-4137-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609061/
https://www.ncbi.nlm.nih.gov/pubmed/28934930
http://dx.doi.org/10.1186/s12864-017-4137-0

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