Article

Automatic variant prioritization in suspected genetic kidney disease using the Nephro Candidate Score (N-CS)

2025-09-30

Abstract excerpt

<h4>Research Question</h4> Despite the identification of >700 genes linked to rare and inherited kidney diseases (IKD), many individuals with presumed IKD do not receive a diagnosis through genetic testing of known disease genes. Therefore, the identification of new disease genes is crucial to ending diagnostic odysseys, improving genetic counseling, and expanding treatment options. While the generation of large-...

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Literature Corpus work: f141b371-8ea3-51a3-90be-e34e5e61c9c1
DOI: 10.1101/2025.09.29.25336840

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