High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
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Author / Creator
Sun, Yu , Ye, Xiantao , Fan, Yanjie , Wang, Lili , Luo, Xiaomei , Liu, Huili , Gao, Xueren , Gong, Zhuwen , Wang, Yu , Qiu, Wenjuan , Zhang, Huiwen , Han, Lianshu , Liang, Lili , Ye, Hui , Xiao, Bing , Gu, Xuefan and Yu, Yongguo
Publisher
England: American Association for Clinical Chemistry, Inc
Journal title
Language
English
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Publisher
England: American Association for Clinical Chemistry, Inc
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Scope and Contents
Contents
Capture sequencing (CS) is widely applied to detect small genetic variations such as single nucleotide variants or indels. Algorithms based on depth comparison are becoming available for detecting copy number variation (CNV) from CS data. However, a systematic evaluation with a large sample size has not been conducted to evaluate the efficacy of CS...
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Full title
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
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Record Identifier
TN_cdi_proquest_miscellaneous_2352636411
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2352636411
Other Identifiers
ISSN
0009-9147
E-ISSN
1530-8561
DOI
10.1093/clinchem/hvz033
