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Book Chapter: Detecting Small Inversions Using SRinversion

TitleDetecting Small Inversions Using SRinversion
Authors
KeywordsNGS
Short inversion detection
Split reads method
Structural variations
Issue Date2018
PublisherHumana Press.
Citation
Detecting Small Inversions Using SRinversion. In Bickhart1, DM (Eds.), Copy Number Variants: Methods and Protocols, p. 107-114. New York, NY: Humana Press, 2018 How to Cite?
AbstractRapid development of next generation sequencing (NGS) technology has substantially improved our ability to detect genomic variations. However, unlike other variations, such as point mutations, insertions, and deletions, which can be identified in high sensitivities and specificities based on NGS reads, most of inversions, especially those shorter than 1 kb, remain difficult to detect. Here we introduce a new framework, SRinversion, which was developed specifically for detection of inversions shorter than 1 kb by splitting and realigning poorly mapped or unmapped reads of the NGS data.
Persistent Identifierhttp://hdl.handle.net/10722/262155
ISBN
Series/Report no.Methods in Molecular Biology

 

DC FieldValueLanguage
dc.contributor.authorChen, R-
dc.contributor.authorLau, YL-
dc.contributor.authorYang, W-
dc.date.accessioned2018-09-28T04:54:13Z-
dc.date.available2018-09-28T04:54:13Z-
dc.date.issued2018-
dc.identifier.citationDetecting Small Inversions Using SRinversion. In Bickhart1, DM (Eds.), Copy Number Variants: Methods and Protocols, p. 107-114. New York, NY: Humana Press, 2018-
dc.identifier.isbn9781493986651-
dc.identifier.urihttp://hdl.handle.net/10722/262155-
dc.description.abstractRapid development of next generation sequencing (NGS) technology has substantially improved our ability to detect genomic variations. However, unlike other variations, such as point mutations, insertions, and deletions, which can be identified in high sensitivities and specificities based on NGS reads, most of inversions, especially those shorter than 1 kb, remain difficult to detect. Here we introduce a new framework, SRinversion, which was developed specifically for detection of inversions shorter than 1 kb by splitting and realigning poorly mapped or unmapped reads of the NGS data.-
dc.languageeng-
dc.publisherHumana Press.-
dc.relation.ispartofCopy Number Variants: Methods and Protocols-
dc.relation.ispartofseriesMethods in Molecular Biology-
dc.subjectNGS-
dc.subjectShort inversion detection-
dc.subjectSplit reads method-
dc.subjectStructural variations-
dc.titleDetecting Small Inversions Using SRinversion-
dc.typeBook_Chapter-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.emailYang, W: yangwl@hku.hk-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.authorityYang, W=rp00524-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/978-1-4939-8666-8_8-
dc.identifier.pmid30039367-
dc.identifier.scopuseid_2-s2.0-85052743062-
dc.identifier.hkuros292098-
dc.identifier.spage107-
dc.identifier.epage114-
dc.publisher.placeNew York, NY-

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