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Fig. 1 | Human Genomics

Fig. 1

From: Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Fig. 1

Overview of 3ASC variant prioritization system. The Bayesian score, symptom similarity, the 3Cnet score, and false risk features were trained to build different 3ASC models including the baseline model, logistic regression models, and random forest models. 3ASC prioritizes variants of each patient according to the scores, and annotates ACMG criteria to each variant. The user can interpret the prioritization result based on the ACMG rules and feature contribution for each variant

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Human Genomics

ISSN: 1479-7364