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

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

Abstract 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 exploratio...

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Bibliographic Details
Main Authors: Michael D. Linderman, Davin Chia, Forrest Wallace, Frank A. Nothaft
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Bioinformatics
Subjects:
Exome sequencing
Copy-number variation
High-performance computing
Online Access:http://link.springer.com/article/10.1186/s12859-019-3108-7

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