{"entity":{"id":"paper-li-accuscan-embo-mol-med-2024","kind":"paper","name":"Ultra-sensitive molecular residual disease detection through whole genome sequencing with single-read error correction","aka":[],"tldr":"A whole-genome blood test that corrects errors read by read detected tumour DNA at about ten parts per million and predicted relapse after bowel cancer surgery.","summary":"AccuScan is a cell-free DNA whole-genome sequencing technology with error correction at the level of single reads, with an error rate of 4.2 x 10^-7, about two orders of magnitude lower than a read-centric de-noising method. Applied to residual disease it showed analytical sensitivity down to 10^-6 circulating variant allele frequency at 99 per cent sample-level specificity; 90 per cent landmark sensitivity and 100 per cent specificity for relapse in colorectal cancer within six weeks of surgery; 67 per cent sensitivity and 100 per cent specificity in oesophageal cancer within a week of surgery; and ctDNA dynamics consistent with outcome in melanoma on immunotherapy.","asOf":"2026-11-04","links":[{"label":"Li et al., EMBO Mol Med 2024","url":"https://doi.org/10.1038/s44321-024-00115-0"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/39164471/"}],"tags":[],"related":[],"cancers":["colorectal","esophageal","melanoma"],"sections":["diagnostics"],"technologies":["mrd-testing","wes-wgs"],"targets":[],"drugs":["accuscan-mrd"],"companies":["accuragen"],"institutions":[],"pathways":[],"terms":["mrd","ctdna","tumour-informed-assay"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"journal":"EMBO Molecular Medicine","year":2024,"doi":"10.1038/s44321-024-00115-0","pmid":"39164471","authors":"Li X, Liu T, Bacchiocchi A, et al.","paperType":"methods","findings":["Error rate 4.2 x 10^-7.","Colorectal cancer: 90% landmark sensitivity, 100% specificity.","Detection at 10 ppm: 96% with 10,000 markers (full text)."],"whatItMeans":"Whole-genome methods without a personalised panel can approach ten parts per million. Below that, the published replicates thin out.","caveats":["The 10^-6 claim rests on one of three replicates at 2 ppm in the full text.","Contrived samples used germline variants."]},"route":"/key-papers/paper-li-accuscan-embo-mol-med-2024/","neighbours":{"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"}],"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"}],"technology":[{"id":"mrd-testing","kind":"technology","name":"MRD / molecular residual disease testing","route":"/technologies/mrd-testing/"},{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"drug":[{"id":"accuscan-mrd","kind":"drug","name":"AccuScan","route":"/drugs/accuscan-mrd/"}],"company":[{"id":"accuragen","kind":"company","name":"AccuraGen","route":"/companies/accuragen/"}],"term":[{"id":"ctdna","kind":"term","name":"Circulating tumour DNA (ctDNA)","route":"/terms/ctdna/"},{"id":"mrd","kind":"term","name":"Minimal / molecular residual disease (MRD)","route":"/terms/mrd/"},{"id":"tumour-informed-assay","kind":"term","name":"Tumour-informed versus tumour-naive ctDNA assays","route":"/terms/tumour-informed-assay/"}]}}