EMBL Course: Circulating Tumour DNA in Clinical Applications

Minimally invasive liquid biopsies have recently emerged as novel diagnostic methods which hold the promise to monitor disease progression, detect minimal residual disease, therapy resistance and potentially even early cancer detection. Participants will gain hands-on experience in the detection of cell free tumor DNA (cfDNA) using a next generation sequencing (NGS) approach that covers all four mutation classes in a single assay. Critical aspects on recent developments to increase analytical sensitivity and mitigate sequencing errors (computational error correction) will be discussed as well as annotation, interpretation, and clinical reporting of liquid biopsy tests. Lectures will cover the evaluation of ctDNA as biomarkers, clinical applications, emerging analytes for liquid biopsy and important challenges.

Topics: Possible use cases of nucleic acids in blood and plasma in clinical settings, Strategies for the construction of high quality NGS libraries from challenging cfDNA samples, In-solution hybridization based target enrichment of clinically relevant targets, Bioinformatics analysis, Annotation, interpretation of mutations and clinical reporting