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- Publisher Website: 10.1007/978-1-4939-8666-8_8
- Scopus: eid_2-s2.0-85052743062
- PMID: 30039367
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Book Chapter: Detecting Small Inversions Using SRinversion
| Title | Detecting Small Inversions Using SRinversion |
|---|---|
| Authors | |
| Keywords | NGS Short inversion detection Split reads method Structural variations |
| Issue Date | 2018 |
| Publisher | Humana 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? |
| Abstract | Rapid 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 Identifier | http://hdl.handle.net/10722/262155 |
| ISBN | |
| ISSN | 2023 SCImago Journal Rankings: 0.399 |
| Series/Report no. | Methods in Molecular Biology |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Chen, R | - |
| dc.contributor.author | Lau, YL | - |
| dc.contributor.author | Yang, W | - |
| dc.date.accessioned | 2018-09-28T04:54:13Z | - |
| dc.date.available | 2018-09-28T04:54:13Z | - |
| dc.date.issued | 2018 | - |
| dc.identifier.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 | - |
| dc.identifier.isbn | 9781493986651 | - |
| dc.identifier.issn | 1064-3745 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/262155 | - |
| dc.description.abstract | Rapid 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.language | eng | - |
| dc.publisher | Humana Press. | - |
| dc.relation.ispartof | Copy Number Variants: Methods and Protocols | - |
| dc.relation.ispartofseries | Methods in Molecular Biology | - |
| dc.subject | NGS | - |
| dc.subject | Short inversion detection | - |
| dc.subject | Split reads method | - |
| dc.subject | Structural variations | - |
| dc.title | Detecting Small Inversions Using SRinversion | - |
| dc.type | Book_Chapter | - |
| dc.identifier.email | Lau, YL: lauylung@hku.hk | - |
| dc.identifier.email | Yang, W: yangwl@hku.hk | - |
| dc.identifier.authority | Lau, YL=rp00361 | - |
| dc.identifier.authority | Yang, W=rp00524 | - |
| dc.description.nature | link_to_subscribed_fulltext | - |
| dc.identifier.doi | 10.1007/978-1-4939-8666-8_8 | - |
| dc.identifier.pmid | 30039367 | - |
| dc.identifier.scopus | eid_2-s2.0-85052743062 | - |
| dc.identifier.hkuros | 292098 | - |
| dc.identifier.spage | 107 | - |
| dc.identifier.epage | 114 | - |
| dc.identifier.eissn | 1940-6029 | - |
| dc.publisher.place | New York, NY | - |
| dc.identifier.issnl | 1064-3745 | - |