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
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DOI | |
发表期刊 | |
ISSN | 1467-5463
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EISSN | 1477-4054
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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. |
关键词 | |
相关链接 | [来源记录] |
收录类别 | |
语种 | 英语
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学校署名 | 其他
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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"]
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WOS研究方向 | Biochemistry & Molecular Biology
; Mathematical & Computational Biology
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WOS类目 | Biochemical Research Methods
; Mathematical & Computational Biology
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WOS记录号 | WOS:001173375300086
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出版者 | |
ESI学科分类 | COMPUTER SCIENCE
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来源库 | Web of Science
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引用统计 |
被引频次[WOS]:1
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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).
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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).
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MLA |
Li, Le,et al."Accurate identification of structural variations from cancer samples".BRIEFINGS IN BIOINFORMATICS 25.1(2024).
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