RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing


With rapid advances in DNA sequencing technologies, whole exome sequencing (WES) has become a popular approach for detecting somatic mutations in oncology studies. The initial intent of WES was to characterize single nucleotide variants, but it was observed that the number of sequencing reads that mapped to a genomic region correlated with the DNA copy… (More)
DOI: 10.4137/CIN.S36612


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