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Detailed Analysis of Genetic Counselors’ Notes and Genetic Diagnostic Reports on 46 Affected Individuals from Cohort 3
(A) A breakdown of the affected individuals according to diagnostic genetic testing.
(B) The distribution of various genetic tests that were used on this cohort.
(C) The distribution of the types of phenotype information used in genetic diagnosis.
(D) Performance of EHR-Phenolyzer in ranking the genes with causal variants among all candidate genes.
