Optimization of Population Frequency Cut-offs for Filtering Common Germline Polymorphisms from Tumor-Only Next-Generation Sequencing Data

In this study, five population databases plus the Catalog of Somatic Mutations in Cancer was employed to demonstrate the impact of changing the PF cut-off on assignment of variants as germline versus somatic.

Source: Journal of Molecular Diagnostics - June 24, 2019 Category: Pathology Authors: Samantha N. McNulty, Bijal A. Parikh, Eric J. Duncavage, Jonathan W. Heusel, John D. Pfeifer Tags: Regular article Source Type: research