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The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories

2026-02-12

Abstract excerpt

Categorical variants, or sets of genomic alterations constrained by shared properties, are pervasive across clinical, regulatory, and research domains in the biomedical ecosystem, yet their inconsistent and non-computable representation hinders data interoperability and clinical interpretation. We surveyed genomic knowledgebases spanning regulatory approvals and the biomedical literature and found that categorical...

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Literature Corpus work
937f5703-a509-5254-a43a-146faf9a3b8e
DOI
10.64898/2026.02.10.705161
Open publication

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