Somatic RNA variant calling in solid tumors


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 symposium presented at the CGC Annual Meeting in St. Louis, Miling Wang, PhD., SOPHiA GENETICS™ Bioinformatics Service Manager will provide information on the importance of fusion detection in solid tumors  and how to overcome challenges of somatic RNA variant calling starting from  sample input to library preparation to analysis and interpretation.

Event Date

July 31, 2022 – July 31, 2022

Event Type


Event Location

North America

Areas of Interest

Solid Tumor

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