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Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-based next-generation sequencing system
DC Field | Value | Language |
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dc.contributor.author | 김보연 | - |
dc.contributor.author | 김윤정 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 이경아 | - |
dc.date.accessioned | 2021-12-28T16:54:45Z | - |
dc.date.available | 2021-12-28T16:54:45Z | - |
dc.date.issued | 2021-10 | - |
dc.identifier.issn | 0009-8981 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/186846 | - |
dc.description.abstract | Background: There is an unmet need to use the ThermoFisher Ion sequencing platform with a hybridization capture-based next-generation sequencing(NGS) panel. However, the analytical performance of combining an ion semiconductor-based sequencing system and a hybridization capture-based NGS panel has not been thoroughly evaluated. Therefore, we compared the analytic performance of Illumina's NextSeq and Ion S5 XL using a hybridization capture-based target enrichment method. Methods: We included 31 clinical samples and NA12878 reference material for comparing two different NGS instruments using a hybridization capture-based panel. The hybridization-based capture hereditary cancer predisposition (HCP) panel was designed for Ion S5 XL Sequencer and Illumina platforms, respectively. Results: We obtained comparable data involving sequencing run metrics and analytical performance of two different NGS systems using a hybridization-based capture panel designed for each NGS platform. The sensitivity, specificity, and accuracy of single-nucleotide variant and indel calling were 97.06%, 100%, and 100% for the Ion S5™ XL system and 98.53%, 100%, and 100% for NextSeq 550Dx platform, respectively. Conclusions: This study demonstrated that a hybrid capture panel kit can be successfully implemented using the ThermoFisher Scientific Ion S5 XL instrument and offers the opportunity to select a variety of hybridization-based capture panels from various manufacturers. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | CLINICA CHIMICA ACTA | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Genetic Predisposition to Disease* | - |
dc.subject.MESH | High-Throughput Nucleotide Sequencing | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Neoplasms* / genetics | - |
dc.subject.MESH | Nucleic Acid Hybridization | - |
dc.subject.MESH | Semiconductors | - |
dc.title | Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-based next-generation sequencing system | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Yoonjung Kim | - |
dc.contributor.googleauthor | Kyung-Hee Kim | - |
dc.contributor.googleauthor | Boyeon Kim | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.identifier.doi | 10.1016/j.cca.2021.07.018 | - |
dc.contributor.localId | A06055 | - |
dc.contributor.localId | A00793 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A02647 | - |
dc.relation.journalcode | J00543 | - |
dc.identifier.eissn | 1873-3492 | - |
dc.identifier.pmid | 34293297 | - |
dc.identifier.url | https://www.sciencedirect.com/science/article/pii/S0009898121002588 | - |
dc.subject.keyword | Hybridization capture-based panel | - |
dc.subject.keyword | Next-generation sequencing | - |
dc.subject.keyword | The Ion S5™ XL system | - |
dc.subject.keyword | The NextSeq 550Dx system | - |
dc.contributor.alternativeName | Kim, Boyeon | - |
dc.contributor.affiliatedAuthor | 김보연 | - |
dc.contributor.affiliatedAuthor | 김윤정 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이경아 | - |
dc.citation.volume | 521 | - |
dc.citation.startPage | 223 | - |
dc.citation.endPage | 228 | - |
dc.identifier.bibliographicCitation | CLINICA CHIMICA ACTA, Vol.521 : 223-228, 2021-10 | - |
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