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Author Correction: Ultrasensitive detection of circulating tumour DNA via deep methylation sequencing aided by machine learning

NATURE BIOMEDICAL ENGINEERING(2021)

Cited 248|Views38
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Abstract
The low abundance of circulating tumour DNA (ctDNA) in plasma samples makes the analysis of ctDNA biomarkers for the detection or monitoring of early-stage cancers challenging. Here we show that deep methylation sequencing aided by a machine-learning classifier of methylation patterns enables the detection of tumour-derived signals at dilution factors as low as 1 in 10,000. For a total of 308 patients with surgery-resectable lung cancer and 261 age- and sex-matched non-cancer control individuals recruited from two hospitals, the assay detected 52–81% of the patients at disease stages IA to III with a specificity of 96% (95% confidence interval (CI) 93–98%). In a subgroup of 115 individuals, the assay identified, at 100% specificity (95% CI 91–100%), nearly twice as many patients with cancer as those identified by ultradeep mutation sequencing analysis. The low amounts of ctDNA permitted by machine-learning-aided deep methylation sequencing could provide advantages in cancer screening and the assessment of treatment efficacy.
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Key words
Biomarkers,Biotechnology,Cancer,Computational biology and bioinformatics,Molecular biology,Biomedicine,general,Biomedical Engineering/Biotechnology
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