Article

Apparent 3D-structural variant-effect signal is explained by variant category, not structure: a category-matched evaluation across nine disease loci

2026-07-07

Abstract excerpt

<title>Abstract</title> <p> Motivation. Deep-learning and biophysical models that score variants by predicted disruption of three-dimensional chromatin or protein structure are increasingly proposed for clinical variant interpretation. Their discriminative performance is typically reported <italic>marginally</italic> , pooling variants across functional categories. Because both pathogenicity and structural-di...

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Literature Corpus work: 6727cd24-cb83-5902-8239-fcde279d92f4
DOI: 10.21203/rs.3.rs-10254695/v1

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Apparent 3D-structural variant-effect signal is explained by variant category, not structure: a category-matched evaluation across nine disease lociDOI 10.21203/rs.3.rs-10254695/v1Read

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