{"id":"W2080361063","doi":"10.1002/ajmg.a.36490","title":"A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Imprinting (psychology); Short stature; Genomic imprinting; Family history; Genetics; Psychology; Medicine; Biology; Pediatrics; Internal medicine; Gene","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":[0.0001568924,0.001091306,0.000300141,0.0009526436,0.0009625614,0.0002201198,0.0003510043,0.0006866353,0.002707904],"category_scores_gemma":[0.0006155613,0.0003239951,0.0004294555,0.0003804661,0.0005523502,0.0001769785,0.0004252128,0.0005767478,0.0002821481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003112446,"about_ca_system_score_gemma":0.0002635037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002394219,"about_ca_topic_score_gemma":0.004183596,"domain_scores_codex":[0.9998214,0.00002320548,0.00001422249,0.00007029477,0.0000376038,0.00003348844],"domain_scores_gemma":[0.9997688,0.00007224616,0.00005547404,0.00001781103,0.00001180382,0.00007398481],"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":[0.0003594381,0.0002249595,0.1640058,0.0000806821,0.000139222,0.6416511,0.002436013,0.0005386918,0.1659917,0.0009101744,0.0007069387,0.02295523],"study_design_scores_gemma":[0.00003944037,0.0005689732,0.206696,0.00002512384,0.0001510528,0.7720954,0.0003382171,0.001201665,0.01649574,0.0002715941,0.002084812,0.00003200372],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972464,0.0002539231,0.001404597,0.0001283548,0.00001878372,0.00001839229,0.00007436306,0.00005106226,0.0008041343],"genre_scores_gemma":[0.9982681,0.00009957529,0.0005519793,0.00004713798,0.00001508258,0.000005568034,0.00005289136,0.000006417514,0.0009531523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002707904,"threshold_uncertainty_score":0.009058833,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009875967680988498,"score_gpt":0.237783361492586,"score_spread":0.2279073938115975,"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."}}