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ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application

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Authors

Lee, Sungyoung; Sun, Choong-Hyun; Jang, Heejun; Kim, Daeyoon; Yoon, Sung-Soo; Koh, Youngil; Na, Seung Chan; Cho, Sung Im; Kim, Man Jin; Seong, Moon-Woo; Byun, Ja Min; Yun, Hongseok

Issue Date
2023-02-23
Publisher
BMC
Citation
BMC Bioinformatics, 24(1):62
Keywords
Internal tandem duplicationNext-generation sequencingAcute myeloid leukemiafragment analysis
Abstract
Abstract
Internal tandem duplication (ITD) of the FMS-like tyrosine kinase (FLT3) gene is associated with poor clinical outcomes in patients with acute myeloid leukemia. Although recent methods for detecting FLT3-ITD from next-generation sequencing (NGS) data have replaced traditional ITD detection approaches such as conventional PCR or fragment analysis, their use in the clinical field is still limited and requires further information. Here, we introduce ITDetect, an efficient FLT3-ITD detection approach that uses NGS data. Our proposed method allows for more precise detection and provides more detailed information than existing in silico methods. Further, it enables FLT3-ITD detection from exome sequencing or targeted panel sequencing data, thereby improving its clinical application. We validated the performance of ITDetect using NGS-based and experimental ITD detection methods and successfully demonstrated that ITDetect provides the highest concordance with the experimental methods. The program and data underlying this study are available in a public repository.
Language
English
URI
https://hdl.handle.net/10371/192139
DOI
https://doi.org/10.1186/s12859-023-05173-8
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