In Silico Proficiency Testing for Clinical Next-Generation Sequencing

Quality assurance for clinical next-generation sequencing (NGS) –based assays is difficult given the complex methods and the range of sequence variants such assays can detect. As the number and range of mutations detected by clinical NGS assays has increased, it is difficult to apply standard analyte-specific proficiency testing (PT). Most current proficiency testing challenges for NGS are methods-based PT surveys that use DNA from reference samples engineered to harbor specific mutations that test both sequence generation and bioinformatics analysis.

Source: Journal of Molecular Diagnostics - November 14, 2016 Category: Pathology Authors: Eric J. Duncavage, Haley J. Abel, John D. Pfeifer Tags: Mini-Review Source Type: research