{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004220575,0.0003585562,0.0005710097,0.00006324657,0.0001773893,0.00003837849,0.00007045684,0.00031764,0.00002956361],"category_scores_gemma":[0.001401871,0.0003088812,0.0002158686,0.0002309327,0.0003073804,0.00001005968,0.0002367513,0.0001649436,0.00001958725],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001309667,"about_ca_system_score_gemma":0.00031998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004501891,"about_ca_topic_score_gemma":0.0006191962,"domain_scores_codex":[0.9970124,0.00009301049,0.001161094,0.001027697,0.0002887907,0.0004169628],"domain_scores_gemma":[0.9976583,0.0002158585,0.0005924154,0.0008758475,0.0003184891,0.0003390633],"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":[0.0001602721,0.0004179062,0.1220181,0.00006274991,0.0003756612,0.8658758,0.000130319,0.00001176904,0.001162894,0.000002808085,0.007908122,0.001873612],"study_design_scores_gemma":[0.003425068,0.002721048,0.03689368,0.00007033455,0.0005037758,0.9233453,0.0007359023,0.0001019842,0.002135937,0.00007669836,0.02964162,0.0003486715],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961331,0.0004581124,0.00006120317,0.00008061274,0.0003320748,0.0006027911,0.00006302028,0.00003810082,0.002231016],"genre_scores_gemma":[0.9948757,0.0006835578,0.0007244872,0.0003661532,0.0002115653,0.00004464531,0.0001398482,0.00006554843,0.002888449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08512445,"threshold_uncertainty_score":0.9999363,"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."}}