{"id":"W4302362755","doi":"10.1002/ccr3.6343","title":"Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p","year":2022,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Medicine; Hypertelorism; Hypotonia; Trisomy; Derivative chromosome; Chromosomal translocation; Anatomy; Internal medicine; Pathology; Chromosome 15; Biology; Genetics","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":[0.0003634048,0.001292483,0.0007601471,0.002947073,0.001402781,0.001533654,0.001522203,0.00464993,0.002829649],"category_scores_gemma":[0.005680405,0.0006212394,0.000655611,0.001418579,0.001746281,0.001848673,0.002242513,0.002932636,0.001505903],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008138667,"about_ca_system_score_gemma":0.0007750752,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001442744,"about_ca_topic_score_gemma":0.0009559541,"domain_scores_codex":[0.9991096,0.0001397291,0.00009894829,0.0002493022,0.0001784143,0.0002239719],"domain_scores_gemma":[0.9975876,0.000748658,0.000614221,0.0002469532,0.0002448343,0.000557776],"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":[0.00002175551,0.000007662692,0.004225359,0.00003456016,0.000005985237,0.990518,0.0001579626,0.00006485761,0.0009750911,0.0005220352,0.0008292144,0.002637505],"study_design_scores_gemma":[0.00000279737,0.00001066055,0.0007320177,0.000008803252,0.000005368981,0.9974153,0.00005541866,0.00008760895,0.0002208616,0.0002915579,0.001164178,0.000005379899],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9074815,0.02547816,0.01995349,0.01814497,0.002243445,0.0002604093,0.001232644,0.001006457,0.02419894],"genre_scores_gemma":[0.9753971,0.007770456,0.007504527,0.002327752,0.002780536,0.00009332989,0.0006516189,0.0001421165,0.0033327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00464993,"threshold_uncertainty_score":0.009466112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05854456764719997,"score_gpt":0.3230253883748045,"score_spread":0.2644808207276046,"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."}}