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A machine learning approach to infer DNase1L3 activity from plasma cell-free DNA fragmentomics

2026-03-18

Abstract excerpt

DNase1L3 is an endonuclease that fragments DNA during apoptosis and digests DNA from microparticles in plasma, shaping key features of cell-free DNA (cfDNA) and maintaining extracellular DNA homeostasis, a process implicated in autoimmunity. The common missense variant p.Arg206Cys (R206C) affects cfDNA through a non-linear allele dosage effect, with limited effects in heterozygotes and strong effects in homozygote...

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Literature Corpus work
1390afd5-4d34-5838-b592-648d546e62fe
DOI
10.64898/2026.03.16.712205
Open publication

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A machine learning approach to infer DNase1L3 activity from plasma cell-free DNA fragmentomicsDOI 10.64898/2026.03.16.712205
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