DEFOR: depth- and frequency-based somatic copy number alteration detector.
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- Record sourced from PubMed, PMID 30860569.
- Also identified by DOI 10.1093/bioinformatics/btz170 and PMC identifier 6761943.
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Abstract
Detection of somatic copy number alterations (SCNAs) using high-throughput sequencing has become popular because of rapid developments in sequencing technology. Existing methods do not perform well in calling SCNAs for the unstable tumor genomes. We developed a new method, DEFOR, to detect SCNAs in tumor samples from exome-sequencing data. The evaluation showed that DEFOR has a higher accuracy for SCNA detection from exome sequencing compared with the five existing tools. This advantage is especially apparent in unstable tumor genomes with a large proportion of SCNAs. DEFOR is available at https://github.com/drzh/defor. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Algorithms
- DNA Copy Number Variations