A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.

ABSTRACT:

Background

Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference samples having a suitably large number of pre-identified variants for properly assessing oncopanel assay analytical quality and performance. The FDA-led Sequencing and Quality Control Phase 2 (SEQC2) consortium analyze ten diverse cancer cell lines individually and their pool, termed Sample A, to develop a reference sample with suitably large numbers of coding positions with known (variant) positives and negatives for properly evaluating oncopanel analytical performance.

Results

In reference Sample A, we identify more than 40,000 variants down to 1% allele f

SUBMITTER: Jones W 

PROVIDER: S-EPMC8051128 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature