Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA.

ABSTRACT: The primary objective of the FDA-led Sequencing and Quality Control Phase 2 (SEQC2) project is to develop standard analysis protocols and quality control metrics for use in DNA testing to enhance scientific research and precision medicine. This study reports a targeted next-generation sequencing (NGS) method that will enable more accurate detection of actionable mutations in circulating tumor DNA (ctDNA) clinical specimens. To accomplish this, a synthetic internal standard spike-in was designed for each actionable mutation target, suitable for use in NGS following hybrid capture enrichment and unique molecular index (UMI) or non-UMI library preparation. When mixed with contrived ctDNA reference samples, internal standards enabled calculation of technical error rate, limit of blank, and lim

SUBMITTER: Willey JC 

PROVIDER: S-EPMC9017191 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature