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... In clinical setting, although sensitivity is important, maintaining PPV is also essential to reduce the number of false positives. In particular, if the prevalence is relatively low, such as that of the ALK fusion in NSCLC (2% to 7%),29 several wrong decisions can be made when PPV is not guaranteed. Clinical decisions based on false test results are risky and may lead to inappropriate treatment strategies. Therefore, if the PPV cannot provide a sufficiently high confidence level, it will be difficult to use the method for diagnostic purposes. Because JuLI has better PPV relative to the existing algorithms, it is likely to deliver accurate fusion profil..... READ ARTICLE
The Journal of Molecular Diagnostics DOI:10.1016/j.jmoldx.2019.10.015
Authors: Hyun-Tae Shin, Nayoung K. D. Kim, Jae Won Yun, Boram Lee, Sungkyu Kyung, Ki-Wook Lee, Daeun Ryu, Jinho Kim, Joon Seol Bae, Donghyun Park, Yoon-La Choi, Se-Hoon Lee, Myung-Ju Ahn, Keunchil Park, Woong-Yang Park