AMP 2019 brings together key researchers in every aspect of molecular diagnostics, including interpretation and reporting of molecular diagnostic tests; assay development, validation, and performance; and translational research.
Corporate Workshop: Using Next-generation Sequencing to Establish Reference Samples for Benchmarking Cancer Mutations
Location: Baltimore Convention Center, Room: 324-326
Date & Time: Wednesday, November 6, 1:00 PM
Next-generation sequencing (NGS)-based diagnostics have transformed clinical oncology. Yet, the lack of well-characterized, community-validated reference materials has challenged the development and analysis of NGS results. To address this, the FDA-led Sequencing Quality Control Phase II (SEQC2) consortium came together to characterize a triple-negative breast cancer cell line and its B lymphocyte-derived normal cell line for use as a community resource. Here, whole-genome sequencing, multiple sequencing replicates, and orthogonal mutation detection bioinformatics pipelines were used to identify and characterize variants and mutations while minimizing potential workflow biases. The resulting reference materials will help facilitate assay development, qualification, validation, and proficiency testing.