Multimodal cell-free DNA whole-genome analysis combined with TET-Assisted Pyridine Borane Sequencing is sensitive and reveals specific cancer signals (original) (raw)

Abstract

The analysis of circulating tumour DNA (ctDNA) promises to extend current tissue-specific cancer screening programmes to multi-cancer early detection and measurable disease monitoring to solid tumours using minimally invasive blood draws (liquid biopsies). Most studies so far have focused on using targeted deep sequencing to detect the low-abundance, fragmented ctDNA. Few studies have integrated information from multiple modalities using shallow 1x WGS. Here, we developed an integrated bioinformatics pipeline for ctDNA detection based on whole genome TET-Assisted Pyridine Borane Sequencing (TAPS) of plasma samples sequenced at 80x or higher. We conducted a diagnostic accuracy study in a case-control cohort of patients presenting to the UK National Health Service's (NHS) primary care pathway with non-specific symptoms of cancer, who either did not have cancer or who were subsequently diagnosed with cancer and referred to surgery with curative intent. TAPS is a base-level-resoluti...

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