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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Bibliografiske detaljer
Udgivet i:BMC Bioinformatics
Main Authors: Linderman, Michael D., Chia, Davin, Wallace, Forrest, Nothaft, Frank A.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
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Software
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6787990/
https://ncbi.nlm.nih.gov/pubmed/31604420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-019-3108-7
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