Somatic Tumor Variant Filtration Strategies to Optimize Tumor-Only Molecular Profiling Using Targeted Next-Generation Sequencing Panels

A common approach in clinical diagnostic laboratories to variant assessment from tumor molecular profiling is sequencing of genomic DNA extracted from both tumor (somatic) and normal (germline) tissue, with subsequent variant comparison to identify true somatic variants with potential impact on patient treatment or prognosis. However, challenges exist in paired tumor-normal testing, including increased cost of dual sample testing and identification of germline cancer predisposing variants. Alternatively, somatic variants can be identified by in silico tumor-only variant filtration precluding the need for matched normal testing.

Source: Journal of Molecular Diagnostics - December 18, 2018 Category: Pathology Authors: Mahadeo A. Sukhai, Maksym Misyura, Mariam Thomas, Swati Garg, Tong Zhang, Natalie Stickle, Carl Virtanen, Philippe L. Bedard, Lillian L. Siu, Tina Smets, Gert Thijs, Steven Van Vooren, Suzanne Kamel-Reid, Tracy L. Stockley Tags: Regular Article Source Type: research