The usage of next-generation sequencing (NGS) to detect copy number variation (CNV) is widely accepted in cancer research. Based on an AluScanCNV software developed by us previously, an AluScanCNV2 software has been developed in the present study as an R package that performs CNV detection from NGS data obtained through AluScan, whole-genome sequencing or other targeted NGS platforms. Its applications would include the expedited usage of somatic CNVs for cancer subtyping, and usage of recurrent germline CNVs to perform machine learning-assisted prediction of a test subject's susceptibility to cancer.
Hu, T., Chen, S., Ullah, A., & Xue, H. (2019). AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data. Genes and Diseases, 6(1), 43–46. https://doi.org/10.1016/j.gendis.2018.09.001