A Tissue-Dependent Structural Prioritization Framework for Enhancer-Proximal ClinVar Variants Across Nine Genomic Loci

Zenodo (CERN European Organization for Nuclear Research) 2026 Preprint Open access

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Authors: Sergey V. Boyko
DOI: 10.5281/zenodo.18867050
Cited by: 0

Abstract

30,318 ClinVar variants across 9 loci. 27 pearl variants invisible to VEP (0), SpliceAI (0.00), CADD (15.7), MPRA (null), gnomAD (85% AF=0) — only ARCHCODE detects via 3D enhancer-promoter contact. Hi-C validation r=0.28-0.59. AlphaGenome multimodal: 2.8x RNA-seq (p

Fields of Study & Subjects

Genomics and Rare Diseases Hemoglobinopathies and Related Disorders Genetic Associations and Epidemiology

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
4 March 2026
Language
EN
Document type
Preprint