DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark

BACKGROUND: XHMM is a widely used tool for copy-number variant (CNV) discovery from whole exome sequencing data but can require hours to days to run for large cohorts. A more scalable implementation would reduce the need for specialized computational resources and enable increased exploration of the...

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Detalles Bibliográficos
Autores principales: Linderman, Michael D., Chia, Davin, Wallace, Forrest, Nothaft, Frank A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787990/
https://www.ncbi.nlm.nih.gov/pubmed/31604420
http://dx.doi.org/10.1186/s12859-019-3108-7

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