GeneticsThe American Journal of Human GeneticsPeer-reviewed
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan…·Jonathan S. Berg
The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.
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