PCR-free shallow whole genome sequencing for chromosomal copy number detection from plasma of cancer patients is an efficient alternative to the conventional PCR-based approach

Somatic copy number alterations (SCNAs) can be detected in cell-free DNA (cfDNA) by shallow whole genome sequencing (sWGS). Polymerase chain reaction (PCR) is typically included in library preparations but a PCR-free method could serve as a high throughput alternative. To evaluate a PCR-free method for research and diagnostics, archival peripheral blood or bone marrow plasma samples collected in EDTA- or lithium heparin-containing tubes were collected from patients with: non-small cell lung cancer (n=10 longitudinal samples; 4 patients), B-cell lymphoma (n=31), acute myeloid leukemia (n=15) or from healthy donors (n=14).

Source: Journal of Molecular Diagnostics - August 25, 2021 Category: Pathology Authors: Jamie J. Beagan, Esther E.E. Drees, Phylicia Stathi, Paul P. Eijk, Laura Meulenbroeks, Floortje Kessler, Jaap M. Middeldorp, D. Michiel Pegtel, Jos ée M. Zijlstra, Daoud Sie, Daniëlle A.M. Heideman, Erik Thunnissen, Linda Smit, Daphne de Jong, Florent M Tags: Regular Article Source Type: research