Cited 2 times in
AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing
DC Field | Value | Language |
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dc.contributor.author | 김상우 | - |
dc.contributor.author | 백순명 | - |
dc.contributor.author | 이한나 | - |
dc.date.accessioned | 2018-08-28T17:02:22Z | - |
dc.date.available | 2018-08-28T17:02:22Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1367-4803 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/162185 | - |
dc.description.abstract | Summary: Ion Torrent sequencing is one of the most frequently used platforms in healthcare research and industry. Despite many advantages, platform-specific artifacts complicate efficient separation of true variants from errors, especially in variants with lower allele frequencies (<15%). Here, we developed a multi-step filtering toolbox AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to approximately 98% reduction of false variants when combined to conventional public pipelines and approximately 48% to the in-house commercial solution, with a minimal loss of sensitivity. Availability and implementation: The program with a detailed manual is available at https://sourceforge.net/projects/airvf/. Contact: swkim@yuhs.ac. Supplementary information: Supplementary data are available at Bioinformatics online. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Oxford University Press | - |
dc.relation.isPartOf | BIOINFORMATICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Life Science | - |
dc.contributor.googleauthor | Sunguk Shin | - |
dc.contributor.googleauthor | Hanna Lee | - |
dc.contributor.googleauthor | Hyeonju Son | - |
dc.contributor.googleauthor | Soonmyung Paik | - |
dc.contributor.googleauthor | Sangwoo Kim | - |
dc.identifier.doi | 10.1093/bioinformatics/btx719 | - |
dc.contributor.localId | A00524 | - |
dc.contributor.localId | A01823 | - |
dc.contributor.localId | A03275 | - |
dc.relation.journalcode | J00299 | - |
dc.identifier.eissn | 1367-4811 | - |
dc.identifier.pmid | 29126106 | - |
dc.identifier.url | https://academic.oup.com/bioinformatics/article/34/7/1232/4596945 | - |
dc.contributor.alternativeName | Kim, Sang Woo | - |
dc.contributor.alternativeName | Paik, Soon Myung | - |
dc.contributor.alternativeName | Lee, Hanna | - |
dc.contributor.affiliatedAuthor | Kim, Sang Woo | - |
dc.contributor.affiliatedAuthor | Paik, Soon Myung | - |
dc.contributor.affiliatedAuthor | Lee, Hanna | - |
dc.citation.volume | 34 | - |
dc.citation.number | 7 | - |
dc.citation.startPage | 1232 | - |
dc.citation.endPage | 1234 | - |
dc.identifier.bibliographicCitation | BIOINFORMATICS, Vol.34(7) : 1232-1234, 2018 | - |
dc.identifier.rimsid | 59772 | - |
dc.type.rims | ART | - |
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