期刊
JOURNAL OF MOLECULAR DIAGNOSTICS
卷 22, 期 3, 页码 304-318出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jmoldx.2019.10.015
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资金
- Korean Health Technology Research and Development Project, Ministry of Health and Welfare, Republic of Korea [HI13C2096]
- Korean Health Technology Research & Development Project via the Korea Health Industry Development Institute
- Ministry of Health and Welfare, Republic of Korea [HI15C3224]
- National Research Foundation of Korea
- Korean Government (Ministry of Science and ICT) [2018M3C9A6017315, 2019R1F1A1042379]
- VHS Medical Center Research grant, Republic of Korea [VHSMC 19042]
- National Research Foundation of Korea [2019R1F1A1042379, 2018M3C9A6017315] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
Accurate detection of genomic fusions by high-throughput sequencing in clinical samples with inadequate tumor purity and formalin-fixed, paraffin-embedded tissue is an essential task in precise oncology. We developed the fusion detection algorithm Junction Location Identifier (JuLI) for optimization of high-depth clinical sequencing. Novel filtering steps were implemented to minimize false positives in the clinical setting. The algorithm was comprehensively validated using high-depth sequencing data from cancer cell lines and clinical samples and genome sequencing data from NA12878. JuLI showed improved performance mainly in positive predictive value over state-of-the-art fusion callers in cases with high-depth clinical sequencing and rescued a driver fusion from false negative in plasma cell-free DNA using joint calling.
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