Article

Regulatory Pathogenicity Is Mechanistically Heterogeneous: A Taxonomy of Activity-, Architecture-, and Coverage-Driven Blind Spots

2026-03-12

Abstract excerpt

<title>Abstract</title> <p>Background. Current variant interpretation tools assign pathogenicity along a single axis — typically sequence conservation or predicted functional impact. This conflation obscures mechanistically distinct classes of regulatory effect that require different computational approaches and different experimental validations. Whether regulatory pathogenicity decomposes into separable mechani...

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Literature Corpus work: da2861f7-a32a-547e-bf83-8f02bae7b1d2
DOI: 10.21203/rs.3.rs-9090074/v1

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