BMC Bioinformatics. 2023;24(1):62.
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.
제1저자 이선영, 선충현 · 교신저자 변자민, 윤홍식
소속 (10)
- Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
- Center for Precision Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
- GenomeOpinion Inc., 117-3 Hoegiro, Dongdaemoon-gu, Seoul, Republic of Korea.
- Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
- Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
- Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
- Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea. jaminbyun@snu.ac.kr.
- Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea. jaminbyun@snu.ac.kr.
- Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea. hsyun@snuh.org.
- Center for Precision Medicine, Seoul National University Hospital, Seoul, Republic of Korea. hsyun@snuh.org.
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.
© 2023. The Author(s).
Keywords
Acute myeloid leukemiaInternal tandem duplicationNext-generation sequencingfragment analysis
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그림 출처: PubMed Central 공개 논문 (PMC9951415)
Conflict of interest statement
The authors declare no conflict of interest.
그 밖의 정보
- 출판 형태
- Journal Article
- 저널
- BMC bioinformatics · eISSN 1471-2105
- 전자 출판
- 2023-02-23
- MeSH
- Humans · Vascular Endothelial Growth Factor Receptor-1* · Protein-Tyrosine Kinases / genetics · Tandem Repeat Sequences / genetics · Leukemia, Myeloid, Acute* / genetics · High-Throughput Nucleotide Sequencing / methods · fms-Like Tyrosine Kinase 3 / genetics · Mutation · Gene Duplication
- Substances
- Vascular Endothelial Growth Factor Receptor-1 · Protein-Tyrosine Kinases · fms-Like Tyrosine Kinase 3 · FLT3 protein, human
- 연구비
- Ministry of Health & Welfare, Republic of Korea HI14C1277
- 참고문헌
- 26편