{"id":"W4376139635","doi":"10.1002/ccr3.7332","title":"No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type <scp>1B</scp>","year":2023,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Royal University Hospital; Western University","funders":"","keywords":"Exome sequencing; Medicine; Genetic testing; Girl; Hypoplasia; Dysplasia; Medical diagnosis; Genetic counseling; Gene duplication; Genetics; Genetic disorder; Pediatrics; Prenatal diagnosis; Mutation; Pathology; Gene; Biology; Pregnancy; Surgery; Internal medicine; Fetus","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004931662,0.0009421352,0.0008560789,0.001512629,0.001754825,0.001448846,0.0008114297,0.00371072,0.005059367],"category_scores_gemma":[0.004019576,0.0007642701,0.0007343356,0.0008184337,0.001894985,0.002844696,0.001858645,0.003375406,0.0014845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007324654,"about_ca_system_score_gemma":0.000800352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140884,"about_ca_topic_score_gemma":0.001552036,"domain_scores_codex":[0.998937,0.0001597106,0.0001178618,0.0003668083,0.0001742745,0.0002444185],"domain_scores_gemma":[0.9979359,0.0006678023,0.0005822543,0.000148313,0.0002018053,0.0004640956],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003579735,0.00002717881,0.00898147,0.00006997881,0.00001681769,0.9813647,0.0005185814,0.00002772319,0.001107611,0.000963368,0.002283614,0.004603244],"study_design_scores_gemma":[0.000003889662,0.00001104982,0.001404491,0.00002781319,0.000009437545,0.9946941,0.0002100875,0.00003876607,0.0001615253,0.0003223054,0.003107039,0.000009593206],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8772494,0.0192605,0.009337184,0.04307865,0.003537619,0.0003274912,0.0008481604,0.0004000409,0.04596095],"genre_scores_gemma":[0.9635586,0.00577644,0.006700867,0.008549605,0.003069569,0.0001381638,0.0003345778,0.0001630151,0.01170914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005059367,"threshold_uncertainty_score":0.01692528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02421868303780681,"score_gpt":0.3309562635958376,"score_spread":0.3067375805580307,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}