Book Chapter

Overview of Fusion Detection Strategies Using Next-Generation Sequencing

Jan Schroeder, Amit Kumar, Stephen Q Wong

TUMOR PROFILING: METHODS AND PROTOCOLS | Methods in Molecular Biology | HUMANA PRESS INC | Published : 2019


Structural gene fusion rearrangements leading to aberrant signaling are frequently detected in many cancer types. Gene fusions have significant prognostic and predictive value and are screened as part of molecular pathology testing for patient management. Many bioinformatic approaches have been developed to detect fusion mutations including whole-genome sequencing, targeted-based hybridization capture, and transcriptome-based approaches. Here we describe the most commonly used experimental methods to sequence and identify gene fusions using either DNA or RNA. We contrast experimental approaches both in the research and diagnostic setting and describe typical bioinformatic pipelines and softw..

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