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Reading the whole genome of DNA in the blood, rather than a few genes very deeply, let researchers detect tumour DNA at one part in 100,000 by adding up thousands of mutations.
The authors found that low tumour fraction combined with the limited number of DNA fragments in a blood sample restricts low-burden monitoring by deep targeted sequencing, and reasoned that breadth could replace depth. Whole-genome sequencing of cell-free DNA, integrating the signal of thousands of somatic mutations found in solid tumours, reached tumour fraction detection sensitivity as low as 10⁻⁵. The approach tracked tumour burden over time and detected postoperative residual disease, which was associated with adverse outcome.
It explains why adding sequencing depth to a small panel stops helping, and points to whole-genome and multi-mutation tests as the way to see less tumour DNA.
Shares Cell-free DNA (cfDNA), Nature Medicine, Circulating tumour DNA (ctDNA) and the tag precision.
Shares Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares Circulating tumour DNA (ctDNA) and the tag precision.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares Whole-exome & whole-genome sequencing and the tag precision.
Shares Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares MRD / molecular residual disease testing and the tag precision.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA) and the tag precision.
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