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AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data
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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chongqing Medical University
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411622/ https://www.ncbi.nlm.nih.gov/pubmed/30906832 http://dx.doi.org/10.1016/j.gendis.2018.09.001 |
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author | Hu, Taobo Chen, Si Ullah, Ata Xue, Hong |
author_facet | Hu, Taobo Chen, Si Ullah, Ata Xue, Hong |
author_sort | Hu, Taobo |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6411622 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Chongqing Medical University |
record_format | MEDLINE/PubMed |
spelling | pubmed-64116222019-03-22 AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data Hu, Taobo Chen, Si Ullah, Ata Xue, Hong Genes Dis Article 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. Chongqing Medical University 2018-09-08 /pmc/articles/PMC6411622/ /pubmed/30906832 http://dx.doi.org/10.1016/j.gendis.2018.09.001 Text en © 2018 Chongqing Medical University. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Hu, Taobo Chen, Si Ullah, Ata Xue, Hong AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title | AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title_full | AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title_fullStr | AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title_full_unstemmed | AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title_short | AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
title_sort | aluscancnv2: an r package for copy number variation calling and cancer risk prediction with next-generation sequencing data |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411622/ https://www.ncbi.nlm.nih.gov/pubmed/30906832 http://dx.doi.org/10.1016/j.gendis.2018.09.001 |
work_keys_str_mv | AT hutaobo aluscancnv2anrpackageforcopynumbervariationcallingandcancerriskpredictionwithnextgenerationsequencingdata AT chensi aluscancnv2anrpackageforcopynumbervariationcallingandcancerriskpredictionwithnextgenerationsequencingdata AT ullahata aluscancnv2anrpackageforcopynumbervariationcallingandcancerriskpredictionwithnextgenerationsequencingdata AT xuehong aluscancnv2anrpackageforcopynumbervariationcallingandcancerriskpredictionwithnextgenerationsequencingdata |