Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis

2024/11/29 by Ana Rius, Nicolas Aguirre, Lorenzo Erra +7 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders

paper · doi:10.1016/j.cca.2024.120065

Citations

• REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

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