Paper - Review

DOI: 10.1038/s41587-022-01222-4

Abstract

Profiling ← of circulating tumor DNA
← in the bloodstream
→ shows promise → for non-invasive cancer detection

❗: Chromatin fragmentation features
→ have previously been explored → to infer gene expression profiles
← from cell-free DNA
❓: Current fragmentomic methods
→ require high concentration of tumor-derived DNA
→ provide limited resolution

❗: describe → promoter fragmentation entropy
← an epigenomic cfDNA feature
∴ predicts RNA expression levels ← at individual genes

❗: EPIC-seq
→ uses targeted sequencing of promoters of genes of interest

∵ Profiling 329 blood samples
← from 201 patients with cancer
← from 87 healthy adults
∴ 1⃣ Classification of subtypes of lung carcinoma 2⃣ diffuse large B cell lymphoma

Applying EPIC-seq → to serial blood samples
← from patients treated with PD-L1 immune checkpoint inihibotors
∴ Gene expression profiles
← inferred by EPIC-seq
→ are correlated with clinical response

❗: EPIC-seq
→ could enable 1⃣ non-invasive 2⃣ high-throughput tissue-of-origin characterization
← with 1⃣ diagnostic 2⃣ prognostic 3⃣ therapeutic potential

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