期刊
BMC BIOINFORMATICS
卷 24, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12859-023-05173-8
关键词
Internal tandem duplication; Next-generation sequencing; Acute myeloid leukemia; fragment analysis
This study introduces a novel and efficient FLT3-ITD detection approach called ITDetect, which utilizes NGS data. ITDetect demonstrates higher accuracy and provides more detailed information compared to existing in silico methods. Validation experiments show that ITDetect has the highest concordance with experimental methods.
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.
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