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Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia

Authors
 Borahm Kim  ;  Hyeonah Lee  ;  Esl Kim  ;  Saeam Shin  ;  Seung-Tae Lee  ;  Jong Rak Choi 
Citation
 LEUKEMIA & LYMPHOMA, Vol.60(13) : 3138-3145, 2019 
Journal Title
 LEUKEMIA & LYMPHOMA 
ISSN
 1042-8194 
Issue Date
2019
Keywords
Acute lymphoblastic leukemia ; copy number variation ; next-generation sequencing ; single nucleotide variation
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.
Full Text
https://www.tandfonline.com/doi/full/10.1080/10428194.2019.1627538
DOI
10.1080/10428194.2019.1627538
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Borahm(김보람) ORCID logo https://orcid.org/0000-0003-0923-7744
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174702
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