1. Clinical validation of plasma whole genome sequencing for detection of minimal residual disease from solid tumours

Plasma whole genome sequencing of peripheral blood cell-free DNA (cfDNA) can sample the mutational spectrum of a tumour to enable minimal residual disease (MRD) detection without serial, invasive tissue collections. We validated the use of plasma WGS for detection of MRD in a CAP/CLIA/ACD-accredited laboratory using the MRDetect algorithm. We prepared libraries using automated and manual workflows across cfDNA inputs from 1-50 ng. We determined that cfDNA input levels down to 10 ng, using both automated (88 samples/run) and manual (14 samples/run) workflows, yielded comparable and reproducible duplication rates0.2 reads / GB), and median fragment insert sizes of 165 bp.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Felix Beaudry, Lubaina Kothari, Savo Lazic, Kristie Ng, Sharanjit Singh, Theodore Chan, Faridah Mbabaali, Andrea Bevan, Samy Danial, Sarah Donald, Austin Devries, Alexander Fortuna, Iain Bancarz, Ilinca lungu, Madhuran Thiagarajah, Jessica Miller, Carolyn Source Type: research