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Cell-Free DNA GWAS Reveals Importance of p.Arg206Cys in DNASE1L3 for Non-Invasive Testing

2024-08-20

Abstract excerpt

<h4>SUMMARY</h4> Properties of cell-free DNA (cfDNA) are intensely studied for their potential as non-invasive biomarkers. We explored the effect of common genetic variants on concentration and fragmentation properties of cfDNA using a GWAS based on low-coverage whole genome sequencing data of 140.000 Dutch Non-Invasive Prenatal Tests (NIPT). Our GWAS detects many genome-wide significant loci, functional enrichmen...

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Literature Corpus work: 051d0605-44a0-5803-bd02-3e7fe03ebcf3
DOI: 10.1101/2024.08.15.24312005

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