EarlyDx focuses on methylation-based approach to detect cancer at its early stages from a tube of blood. Cancer cells often display aberrant DNA methylation patterns. Aberrantly methylated tumor DNA fragments can be released to the bloodstream via processes such as cell apoptosis or necrosis, where these tumor-derived DNA become part of the circulating cell-free DNA (cfDNA) in blood. Thus, cfDNA methlyation profiling is a promising strategy for cancer diagnosis. However, detecting cancer at its early stages is difficult due to a tiny amount of tumor-derived cfDNA mixed with cfDNA of other sources.
Our proprietary algorithm, CancerDetector, probabilistically model the joint methylation patterns of multiple adjacent CpG sites to identify tumor-derived cfDNA at the level of individual reads. By amplifying and aggregating tumor signals across the genome, CancerDetector can detect the presence of tumor cfDNA in proportions as low as 0.1%. The methylation is known to be tissue-specific. Our proprietary algorithm, CancerLocator, can not only detect cancer at its early stage but also pinpoint its tissue-of-origin.
- Kang S, et al., CancerLocator: non-invasive cancer diagnosis and tissue-of-origin prediction using methylation profiles of cell-free DNA. Genome biology. 2017;18(1):53.
- Li W, et al., CancerDetector: ultrasensitive and non-invasive cancer detection at the resolution of individual reads using cell-free DNA methylation sequencing data. Nucleic acids research. 2018;46(15):e89.