{"id":"W4220679930","doi":"10.1016/j.gim.2022.02.005","title":"Expanding the phenotypic spectrum of ARCN1-related syndrome","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences","keywords":"Microcephaly; Cataracts; Progeria; Medicine; Short stature; Pediatrics; Hepatoblastoma; Intellectual disability; Phenotype; Intrauterine growth restriction; Internal medicine; Pregnancy; Fetus; Genetics; Biology","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":[0.0006110051,0.0009525779,0.0006427308,0.002152615,0.0002677252,0.0006293682,0.0006297823,0.001085818,0.003294301],"category_scores_gemma":[0.002127407,0.0001931559,0.0003732965,0.0009623991,0.0009426969,0.0008696325,0.001132996,0.0008878181,0.0004605199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003480474,"about_ca_system_score_gemma":0.0004136076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007638205,"about_ca_topic_score_gemma":0.0008030568,"domain_scores_codex":[0.9994479,0.0001461331,0.00005895082,0.0001164406,0.0001498374,0.00008068665],"domain_scores_gemma":[0.9989795,0.0005226147,0.0001253649,0.00009161171,0.0001478693,0.0001329264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001130641,0.0002470858,0.08341175,0.001081493,0.0001427264,0.3056567,0.001326215,0.003174396,0.2593406,0.01747533,0.01128721,0.315726],"study_design_scores_gemma":[0.0001315967,0.000292147,0.09329443,0.000593695,0.0002390182,0.8139994,0.0007049539,0.003955612,0.02619546,0.01624815,0.044261,0.00008452951],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8913108,0.02369854,0.02117019,0.01453896,0.0005839917,0.00008945278,0.0008662462,0.0009035816,0.04683829],"genre_scores_gemma":[0.9687301,0.01362982,0.01337638,0.001473791,0.0007622085,0.00002872954,0.000379329,0.000103896,0.001515828],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003294301,"threshold_uncertainty_score":0.01102048,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009407012401906287,"score_gpt":0.2507015205569482,"score_spread":0.2412945081550419,"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."}}