# Ultra-sensitive molecular residual disease detection through whole genome sequencing with single-read error correction

Source: https://onco.cc/key-papers/paper-li-accuscan-embo-mol-med-2024/  
OnCo record `paper-li-accuscan-embo-mol-med-2024` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-11-04
- Journal: EMBO Molecular Medicine
- Year: 2024
- DOI: 10.1038/s44321-024-00115-0
- Authors: Li X, Liu T, Bacchiocchi A, et al.
- 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).
- What it means: 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.

## Sources

- Li et al., EMBO Mol Med 2024: https://doi.org/10.1038/s44321-024-00115-0
- PubMed: https://pubmed.ncbi.nlm.nih.gov/39164471/

## Connected records

- cancers: [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Melanoma](https://onco.cc/cancers/melanoma/), [Oesophageal cancer](https://onco.cc/cancers/esophageal/)
- fronts: [Diagnostics & Biomarkers](https://onco.cc/fronts/diagnostics/)
- technologies: [MRD / molecular residual disease testing](https://onco.cc/technologies/mrd-testing/), [Whole-exome & whole-genome sequencing](https://onco.cc/technologies/wes-wgs/)
- drugs: [AccuScan](https://onco.cc/drugs/accuscan-mrd/)
- companies: [AccuraGen](https://onco.cc/companies/accuragen/)
- terms: [Circulating tumour DNA (ctDNA)](https://onco.cc/terms/ctdna/), [Minimal / molecular residual disease (MRD)](https://onco.cc/terms/mrd/), [Tumour-informed versus tumour-naive ctDNA assays](https://onco.cc/terms/tumour-informed-assay/)

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