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A machine-learning upgrade to whole-genome blood testing that strips out sequencing errors well enough to follow cancer without any tumour tissue.
MRD-EDGE is a machine-learning-guided whole-genome ctDNA platform for single-nucleotide and copy-number variants. Its SNV component uses deep learning and a ctDNA-specific feature space to raise signal-to-noise about 300-fold over earlier whole-genome error suppression; its copy-number component cuts the aneuploidy needed for detection from 1 Gb to 200 Mb. The authors used it to find residual disease after surgery in several cancers, track tumour fraction during neoadjuvant immunotherapy in lung cancer, show ctDNA shedding from precancerous colorectal adenomas, and monitor advanced melanoma and lung cancer on immune checkpoint inhibitors from plasma alone.
Whole-genome methods can now follow cancer in blood without a tumour sample. Because each site is read about once, the result is how much tumour DNA there is, not which clone.
Shares Genome-wide ctDNA mutation integration (MRDetect, MRD-EDGE), Cell-free DNA (cfDNA), Nature Medicine, Circulating tumour DNA (ctDNA).
Shares Cell-free DNA (cfDNA), Nature Medicine, Circulating tumour DNA (ctDNA).
Shares Genome-wide ctDNA mutation integration (MRDetect, MRD-EDGE), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing, Melanoma.
Shares Cell-free DNA (cfDNA), Nature Medicine, Circulating tumour DNA (ctDNA).
Shares Cell-free DNA (cfDNA), Nature Medicine, Circulating tumour DNA (ctDNA), Non-small-cell lung cancer.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA).
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), Non-small-cell lung cancer.
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