[PMID: 27507884] [Nucleic Acids Research]

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

“more than 30% of WES data map outside the targeted regions and that these reads, usually discarded, can be exploited to enhance the identification of CNVs from WES experiments.””the first read count based tool that exploits all the reads produced by WES experiments to detect CNVs with a genome-wide resolution.”


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