SynthEx is a tool to detect copy number alteration (CNA) and to profile tumor heterogeneity in a variety of high-throughput sequencing data. The SynthEx algorithm uses "synthetic normal" to represent the target; Thus, it does not need a matched pair of samples as normals.
Oncology; Genetic variation; Sequencing
Silva GO, Siegel MB, Mose LE, Parker JS, Sun W, Perou CM, Chen M "SynthEx: a synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling." Genome Biol, 2017 https://doi.org/10.1186/s13059-017-1193-3
PMID: 28390427
PMCID: PMC5385048
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