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How DNA fragments in blood are cut at the start of each gene predicted how active that gene was, enough to tell lung and lymphoma subtypes apart.
Promoter fragmentation entropy is an epigenomic cell-free DNA feature that predicts RNA expression at individual genes. EPIC-seq applies it with targeted sequencing of promoters. In 329 blood samples from 201 patients with cancer and 87 healthy adults it classified subtypes of lung carcinoma and diffuse large B-cell lymphoma, and in serial samples from patients on PD-1 or PD-L1 inhibitors the inferred expression profiles correlated with clinical response.
Gene expression, not only mutation, can be inferred from blood, and the method keeps some accuracy below 1 per cent tumour DNA. That is still far above residual-disease levels.
Shares EPIC-seq (expression inference from cell-free DNA), cfDNA fragmentomics, Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA).
Shares Nature Biotechnology, Circulating tumour DNA (ctDNA).
Shares cfDNA fragmentomics, Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA).
Shares EPIC-seq (expression inference from cell-free DNA), Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA).
Shares Nature Biotechnology, Circulating tumour DNA (ctDNA).
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), Non-small-cell lung cancer.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA).
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