DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
Abstract
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 configuration parameter space to obtain the best possible results.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Oct 11, 2019
- Source ID
- 10.1186/s12859-019-3108-7
Entities
People
- Davin Chia
- Forrest Wallace
- Frank A. Nothaft
- Michael D Linderman
Organizations
- Defense Advanced Research Projects Agency
- Lawrence Berkeley National Laboratory
- National Human Genome Research Institute
- National Institutes of Health
- National Science Foundation