Combined Mutation Detection and Copy Number Profiling by Error-Corrected ctDNA Sequencing
This webinar discusses a molecular barcode-based error correction method that enables combined mutation detection and DNA copy number profiling through circulating tumor DNA sequencing.
Mutations and DNA copy number aberrations (CNAs) are important predictive biomarkers in cancer medicine, but spatial intratumor heterogeneity can hinder accurate cancer profiling from biopsies and cancer evolution alters genomic profiles over time.
Circulating tumor DNA (ctDNA) sequencing may overcome these hurdles by enabling multi-timepoint testing and the detection of subclones that are disseminated in space.
In this webinar, Dr. Marco Gerlinger of the Institute of Cancer Research, London, discusses an approach that combines solution hybrid capture for target enrichment and molecular barcodes for sequencing error correction. This customizable ultra-sensitive ctDNA sequencing technology can be applied to 25 ng of ctDNA, a quantity that can usually be obtained from 10-20 ml of blood. Deep sequencing of the target region with over 20,000x depth enables mutation detection in driver gene panels with a sensitivity of up to 0.1%. The analysis of off-target reads allows simultaneous genome-wide CNA profiling.
Sample preparation, sequencing, and data analysis workflows as well as a concordance analysis of ctDNA and tumor sequencing in colorectal cancers are presented in the webinar.