Scoping Review: Explainable AI in Rare Disease Genomics

Abstract excerpt

This scoping review maps the current landscape of explainable artificial intelligence (XAI) methods applied to rare disease genomic diagnostics. It evaluates clinical validation practices, identifies translational barriers preventing deployment in clinical settings, and assesses regulatory and ethical considerations under the EU AI Act and GDPR Article 22. The review follows the Arksey and O'Malley (2005) scoping...

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• Genomics and Rare Diseases

Identifiers and source

Literature Corpus work

ca9d0c75-61ff-5286-9334-dbcd30d1c7a4

DOI

10.17605/osf.io/5hnku