Cited 5 times in
Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김보람 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2020-02-11T06:30:23Z | - |
dc.date.available | 2020-02-11T06:30:23Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1042-8194 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/174702 | - |
dc.description.abstract | Acute lymphoblastic leukemia (ALL) is a genetically complex and heterogeneous disease for which a wide range of genetic variations has been identified. With the need for comprehensive high-throughput analysis, we have designed a comprehensive next-generation sequencing (NGS) assay to detect somatic mutations, translocations, and copy number changes and have evaluated its clinical utility in patients with ALL. The panel reliably detected single nucleotide variations (SNV) and copy number variations (CNV) analysis was exceptionally useful in identifying genic and chromosomal CNV which dominated the genetic abnormalities of ALL. We detected SNVs and CNVs simultaneously in a single assay, which could provide an alternative or supplement for several conventional tests and simplify the testing processes. We applied the genetic information obtained to the risk stratification of patients with high risk mutations and further confirmed the clinical utility of the comprehensive genetic testing with intensive bioinformatics analysis. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Informa Healthcare | - |
dc.relation.isPartOf | LEUKEMIA & LYMPHOMA | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Borahm Kim | - |
dc.contributor.googleauthor | Hyeonah Lee | - |
dc.contributor.googleauthor | Esl Kim | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.identifier.doi | 10.1080/10428194.2019.1627538 | - |
dc.contributor.localId | A05615 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J02165 | - |
dc.identifier.eissn | 1029-2403 | - |
dc.identifier.pmid | 31203682 | - |
dc.identifier.url | https://www.tandfonline.com/doi/full/10.1080/10428194.2019.1627538 | - |
dc.subject.keyword | Acute lymphoblastic leukemia | - |
dc.subject.keyword | copy number variation | - |
dc.subject.keyword | next-generation sequencing | - |
dc.subject.keyword | single nucleotide variation | - |
dc.contributor.alternativeName | Kim, Borahm | - |
dc.contributor.affiliatedAuthor | 김보람 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 최종락 | - |
dc.citation.volume | 60 | - |
dc.citation.number | 13 | - |
dc.citation.startPage | 3138 | - |
dc.citation.endPage | 3145 | - |
dc.identifier.bibliographicCitation | LEUKEMIA & LYMPHOMA, Vol.60(13) : 3138-3145, 2019 | - |
dc.identifier.rimsid | 63326 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.