Why do genes previously implicated in disease show false associations, and what systematic biases led to these errors?

neurogenetics open
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Description

GADO flags genes previously incorrectly implicated in disease, but the mechanisms causing these systematic misassignments remain unexplained. Understanding these biases is critical for improving diagnostic accuracy and preventing future misclassifications in neurogenetic disorders.

Gap type: unexplained_observation Source paper: Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. (2019, Nature communications, PMID:31253775)

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