Article

Lost in .*Vcf Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical and Interpretive Challenges in the Post-Sequencing Era

2025-06-23

Abstract excerpt

<h4>Background: </h4> The genomic era has transformed not only the tools of medicine but the very logic by which we understand health and disease. Whole Exome Sequencing (WES), Clinical Exome Sequencing (CES), and Whole Genome Sequencing (WGS) have catalyzed a shift from Mendelian simplicity to polygenic complexity, from genetic determinism to probabilistic interpretation. This epistemological evolution calls into...

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Literature Corpus work: 15809aba-880e-568c-8db7-9964b8a98d6e
DOI: 10.20944/preprints202506.1805.v1

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