Making reality meet expectations: design and validation of a rapid, low-input panel to detect essential variants
Jennifer Morrissette, PhD & Robyn Sussman, PhD
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Chapters
Introduction
The evolution of Penn’s Center for Personalized Diagnostics
Problems in the NGS laboratory
Problem: Some specimens were insufficient for the larger sequencing panel
Problem: Variability and complexity of clinical specimens
Hotspot panel detects fewer pathogenic variants
Monitoring lung adenocarcinoma for resistance mutations
Swiftly making reality meet expectations
Our customized off the shelf panel
Initial panel testing with Horizon quantitative multiplex reference standards
Input dilution series with Horizon reference controls
Validation of analytical sensitivity and variance
Fold change of 50% vs 100% Horizon gDNA
Fold change of 50% vs 100% Horizon mildly compromised
Fold change of 50% vs 100% Horizon moderately compromised
Degradation and input affect reproducibility
Clinical utility for low input samples
Successful customization of panel to incorporate TERT promoter mutation
Summary
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