BioinformaticsbioRxivPreprint
Profiling copy number alterations in cell-free tumour DNA using a single-reference
Alan J. Robertson, Qinying Xu, Sarah Song…·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.
DOI 10.1101/290171