An R package AluScanCNV2 is based on the previously developed AluScanCNV tool. This tool is specifically designed for copy number variation (CNV) calling from next-generation sequencing (NGS) data and for germline CNV-based cancer risk prediction. It uses Geary-Hinkley transformation (GHT)-based comparison of the read-depth.
Genetics; sequencing; Oncology; machine learning
Hu T, Chen S, Ullah A, Xue H "AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data." Genes Dis. 2018 Sep 8;6(1):43-46. https://doi.org/10.1016/j.gendis.2018.09.001
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