RNA analyses: Overcome the challenges of novel fusion detection


Gene fusions are the latest type of biomarker to receive broad applicability in cancer management. More than 10,000 gene fusions have already been identified in human cancers and it is estimated that up to 80% of solid tumors could benefit from gene fusion testing. The number of new drug approvals in fusion-positive cancers has been continuously increasing over the last decade. In parallel, more clinical trials are being rolled out to target fusion-positive cancers, hopefully leading to further improvements in treatment options in the near future.

Given the above, clinical researchers need to consider their need for a high-performance fusion detection solution with the ability to detect novel fusions, while taking into account a range of limitations, such as small input amounts, lengthy workflows, and inconvenient interpretation of the results.

In this webinar, Dr Boppudi will share her experience of selecting a solution for fusion detection, including her experience with RNAtarget Technology and SOPHiA DDM Platform. Our experts and guests will:
– Present considerations for fusion detection in solid tumor oncology
– Discover the features of various technologies for fusion detection with a focus on next-generation sequencing (NGS)
– Get an overview of the RNAtarget Technology from SOPHiA GENETICS
– Discuss future directions of fusion detection and RNA analyses including calling expression changes and single nucleotide variants (SNVs) in RNA


Dr. Sanga Mitra Boppudi Biologist/Molecular pathology lab head at Helios Dr. Horst Schmidt Kliniken Wiesbaden, Institute of Pathology and cytology, Wiesbaden, Germany

Dr Boppudi earned her doctoral degree (PhD in Neurogenetics) from the University Hospital Magdeburg, Otto-von Guericke University, Magdeburg, Germany. In addition, she was also a graduate scholar of Leibniz Institute for Neurobiology, Magdeburg (LGS Synaptogenetics), Germany.

Dr Boppudi has accumulated over a decade of experience with Next generation sequencing (NGS) techniques and technologies since her master’s studies in 2012. She has expertise in a broad range of library preparation, target enrichment and analysis/annotation methodologies, including custom panel design, assay validation and implementation.

In her current role as the Molecular Pathology Lab head she was responsible for establishing the entire NGS workflow from sample input optimization to the results’ reporting.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

Event Date
June 30, 2022 –

Event Type


Event Location


Areas of Interest

Solid Tumor

Disclaimer notice:

The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.

The opinions expresseda during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.

SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

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