Profiling copy number alterations in cell-free tumour DNA using a single-reference
Alan J. Robertson, Qinying Xu, Sarah Song, Devika Ganesamoorthy, Derek Benson, Wenhan Chen, Kaltin Ferguson, Kátia Nones, Sunil R. Lakhani, Peter T. Simpson, Nicola Waddell, John V. Pearson, Lachlan Coin
This paper introduces qCNV and sCNA-seq tools to profile somatic copy number alterations in cell-free DNA without a reference panel, showing effectiveness in detecting clinically relevant mutations from plasma samples.
bioRxiv · Mar 28, 2018 · PreprintBioinformatics