NDLI: Rearrangement structure-independent strategy of CNV breakpoint analysis

Content Provider	Springer Nature Link
Author	Xiao, Jianqiu Zhang, Ling Wang, Jingmin Jiang, Yuwu Jin, Lirong Lu, Jianqi Jin, Li Zhong, Chunjiu Xu, Xiangmin Zhang, Feng
Copyright Year	2014
Abstract	Rare copy number variations (CNVs) generated by human genomic rearrangements have been shown to play an important role in pathogenesis of human diseases and cancers. CNV breakpoint analysis can help define genomic location, genetic content and sequence structure of pathogenic CNVs. This process is vital to elucidate CNV mutational mechanism and etiology of CNV-associated disorders. However, it is technically challenging to map CNV breakpoints at base-pair level, especially in the genomic regions with sequence complexity. In this study, we developed a new method of capture and breakpoint approaching sequencing (CBAS) to efficiently obtain CNV breakpoint sequences. This strategy is independent of CNV structures and applicable to various CNV types. As was demonstrated in CNV-associated patients with neurological disorders, CBAS achieved fine mapping of breakpoint sequences for compound deletion, complex duplication, and translocation. Intriguingly, CBAS also revealed unexpected CNV complexity involving long-range DNA rearrangement. Our observations showed that CBAS is an efficient method for obtaining CNV breakpoint sequence and mapping insertional events as well. This method can facilitate the researches on CNV-associated human diseases and cancers. CBAS is also applicable to mapping the integration sites of retrovirus (such as HIV) and transgenes in model organisms.
Starting Page	755
Ending Page	763
Page Count	9
File Format	PDF
ISSN	16174615
Journal	Molecular and General Genetics MGG
Volume Number	289
Issue Number	5
e-ISSN	16174623
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-04-16
Publisher Place	Berlin/Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Breakpoint CNV Human disease Integration Sequencing Cell Biology Biochemistry Microbial Genetics and Genomics Plant Genetics & Genomics Animal Genetics and Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Molecular Biology

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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