An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors

We report the development of an exome capture-based RNA-sequencing assay to detect recurring and novel fusions in hematologic, solid, and central nervous system tumors. The assay uses Twist Comprehensive Exome capture with either fresh or formalin-fixed samples and a bioinformatic platform that provides fusion detection, prioritization, and downstream curation. A minimum of 50 million uniquely mapped reads, a consensus read alignment/fusion calling approach using four callers (Arriba, FusionCatcher, STAR-Fusion, and Dragen), and custom software are used to integrate, annotate, and rank the candidate fusion calls.

Source: Journal of Molecular Diagnostics - November 24, 2023 Category: Pathology Authors: Jonathan Buckley, Ryan 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 Tags: Regular article Source Type: research