AluScanCNV2

AluScanCNV2 is an R package that detects copy number variations (CNVs) from next-generation sequencing (NGS) data. It is an upgraded version of the previously developed AluScanCNV software. The package can analyze data obtained through various NGS platforms, including AluScan, whole-genome sequencing, and other targeted sequencing methods. AluScanCNV2 enables researchers to efficiently utilize somatic CNVs for cancer subtyping and recurrent germline CNVs to predict an individual's susceptibility to cancer using machine learning techniques. This tool facilitates the integration of CNV analysis in cancer research and has the potential to advance personalized medicine approaches.

Topic

Sequencing;Oncology;Machine learning

Detail

  • Operation: -

  • Software interface: Library

  • Language: R

  • License: GNU General Public License, version 3

  • Cost: Free of charge with restrictions

  • Version name: v2.0

  • Credit: University Grants Committee, Innovation and Technology Fund of Hong Kong SAR.

  • Input: -

  • Output: -

  • Contact: Hong Xue hxue@ust.hk

  • Collection: -

  • Maturity: -

Publications

  • AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data.
  • Hu T, et al. AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data. AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data. 2019; 6:43-46. doi: 10.1016/j.gendis.2018.09.001
  • https://doi.org/10.1016/j.gendis.2018.09.001
  • PMID: 30906832
  • PMC: PMC6411622

Download and documentation

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