中文版 | English
题名

Accurate identification of structural variations from cancer samples

作者
通讯作者Yue, Feng; Yip, Kevin Y.
发表日期
2024
DOI
发表期刊
ISSN
1467-5463
EISSN
1477-4054
卷号25期号:1
摘要
Structural variations (SVs) are commonly found in cancer genomes. They can cause gene amplification, deletion and fusion, among other functional consequences. With an average read length of hundreds of kilobases, nano-channel-based optical DNA mapping is powerful in detecting large SVs. However, existing SV calling methods are not tailored for cancer samples, which have special properties such as mixed cell types and sub-clones. Here we propose the Cancer Optical Mapping for detecting Structural Variations (COMSV) method that is specifically designed for cancer samples. It shows high sensitivity and specificity in benchmark comparisons. Applying to cancer cell lines and patient samples, COMSV identifies hundreds of novel SVs per sample.
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语种
英语
学校署名
其他
资助项目
Hong Kong Research Grants Council Collaborative Research Fund[C4057-18E] ; Hong Kong Research Grants Council Collaborative Research Funds["C4015-20E","C4045-18W","C7044-19G","14170217","14203119"] ; National Institute of Health["P30 CA030199-41","U54 AG079758-01","R21AG075483-01S1"]
WOS研究方向
Biochemistry & Molecular Biology ; Mathematical & Computational Biology
WOS类目
Biochemical Research Methods ; Mathematical & Computational Biology
WOS记录号
WOS:001173375300086
出版者
ESI学科分类
COMPUTER SCIENCE
来源库
Web of Science
引用统计
被引频次[WOS]:1
成果类型期刊论文
条目标识符http://sustech.caswiz.com/handle/2SGJ60CL/788947
专题南方科技大学第一附属医院
作者单位
1.Chinese Univ Hong Kong, Dept Comp Sci & Engn, Hong Kong, Peoples R China
2.Northwestern Univ, Dept Biochem & Mol Genet, Chicago, IL USA
3.Chinese Univ Hong Kong, Sch Life Sci, Hong Kong, Peoples R China
4.Shenzhen Peoples Hosp, Shenzhen, Peoples R China
5.Chinese Univ Hong Kong, Dept Anat & Cellular Pathol, Hong Kong, Peoples R China
6.Chinese Univ Hong Kong, Dept Surg, Hong Kong, Peoples R China
7.Chinese Univ Hong Kong, Sch Biomed Sci, Hong Kong, Peoples R China
8.Northwestern Univ, Feinberg Sch Med, Chicago, IL USA
9.Sanford Burnham Prebys Med Discovery Inst, NCI Designated Canc Ctr, La Jolla, CA 92037 USA
10.Sanford Burnham Prebys Med Discovery Inst, NCI Designated Canc Ctr, Canc Genome & Epigenet Program, 10901 North Torrey Pines Rd, La Jolla, CA 92037 USA
11.Cornell Univ, Weill Inst Cell & Mol Biol, Ithcha, NY 14853 USA
12.Southern Univ Sci & Technol, Clin Med Coll 2, Shenzhen Peoples Hosp, Affiliated Hosp 1,Jinan Univ, Shenzhen 518020, Peoples R China
推荐引用方式
GB/T 7714
Li, Le,Hong, Chenyang,Xu, Jie,et al. Accurate identification of structural variations from cancer samples[J]. BRIEFINGS IN BIOINFORMATICS,2024,25(1).
APA
Li, Le.,Hong, Chenyang.,Xu, Jie.,Chung, Claire Yik-Lok.,Leung, Alden King-Yung.,...&Yip, Kevin Y..(2024).Accurate identification of structural variations from cancer samples.BRIEFINGS IN BIOINFORMATICS,25(1).
MLA
Li, Le,et al."Accurate identification of structural variations from cancer samples".BRIEFINGS IN BIOINFORMATICS 25.1(2024).
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