Optimization of Population Frequency Cutoffs 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 were used to demonstrate the impact of changing the PF cutoff 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