DEFOR: depth- and frequency-based somatic copy number alteration detector.

Zhang, He; Zhan, Xiaowei; Brugarolas, James; Xie, Yang · Bioinformatics · 2019

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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.

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