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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.

Human genetics - 1 Mar 2024

Zeng Bing, Liu Dong Cheng, Huang Jian Guo, Xia Xiao Bo, Qin Bo

Abstract excerpt

Accurate discrimination of pathogenic and nonpathogenic variation remains an enormous challenge in clinical genetic testing of inherited retinal diseases (IRDs) patients. Computational methods for predicting variant pathogenicity are the main solutions for this dilemma. The majority of the state-of-the-art variant pathogenicity prediction tools disregard the differences in characteristics among different genes...

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PMID: 38478153
DOI: 10.1007/s00439-024-02645-6

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