A Verified Genomic Reference Sample for Assessing Performance of Cancer Panels Detecting Small Variants of Low Allele Frequency

Presented at the MCBIOS & MAQC 2021 Joint Conference

This presentation discusses the challenge with the development/validation/QC of cancer panels and provides insight into the following questions:

  • How do I establish a valid Limit of Detection (LOD) with only a few variants having frequencies around the true LOD?
  • How do I determine sensitivity, precision, etc. with reasonable confidence bounds with only a few variants?

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