Researchers at Children’s Hospital Los Angeles report in The Journal of Molecular Diagnostics about a new tool that effectively integrates data from four fusion callers and identifies disease-related gene fusions
Philadelphia, February 13, 2024 – Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients. Researchers at Children’s Hospital Los Angeles have developed a novel assay that automatically integrates the data from multiple fusion identification tools (callers) and efficiently and accurately identifies clinically relevant gene fusions in pediatric tumors. Their results are reported in The Journal of Molecular Diagnostics, published by Elsevier.
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors,” by Jonathan Buckley, Ryan J. Schmidt, Dejerianne Ostrow, Dennis Maglinte, Moiz Bootwalla, David Ruble, Ananthanarayanan Govindarajan, Jianling Ji, Alexandra E. Kovach, Etan Orgel, Gordana Raca, Fariba Navid, Leo Mascarenhas, Bruce Pawel, Nathan Robison, Xiaowu Gai, and Jaclyn A. Biegel (https://doi.org/10.1016/j.jmoldx.2023.11.003). The article appears in The Journal of Molecular Diagnostics, volume 26, issue 2 (February 2024), published by Elsevier. It is openly available at https://www.jmdjournal.org/article/S1525-1578(23)00274-X/fulltext.
