{"id":"W3001510942","doi":"10.3390/genes11020128","title":"Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion","year":2020,"lang":"en","type":"article","venue":"Genes","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital; University of Saskatchewan; University of Alberta Hospital; University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; W. Garfield Weston Foundation; BC Children's Hospital","keywords":"Exome sequencing; Phenotype; Genetics; Short stature; Biology; Phenocopy; Locus (genetics); Small nucleolar RNA; Hypotonia; Exome; Gene; Long non-coding RNA; Endocrinology; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001522103,0.0009818035,0.0005287235,0.0008168292,0.0004371058,0.0002741479,0.0004546302,0.0007073338,0.00208186],"category_scores_gemma":[0.0008365621,0.0003399976,0.0002917929,0.0004613672,0.0007887204,0.000263513,0.0007693318,0.0007525015,0.0004314974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001592159,"about_ca_system_score_gemma":0.0001993133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006765798,"about_ca_topic_score_gemma":0.0009270258,"domain_scores_codex":[0.9998085,0.00002897214,0.00001815716,0.00007443426,0.00003221109,0.000037858],"domain_scores_gemma":[0.9994214,0.0001716899,0.0002017533,0.00003348593,0.00001813861,0.0001536298],"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":[0.0001719426,0.0000640071,0.0326458,0.00007465909,0.000054284,0.9356279,0.0003613154,0.000286623,0.02539637,0.0006277228,0.0003808657,0.004308505],"study_design_scores_gemma":[0.00003414687,0.0003180862,0.04694288,0.00001153234,0.00005096513,0.9447553,0.0001116382,0.0005353061,0.005560034,0.0002314409,0.001425881,0.00002277466],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964417,0.0003002116,0.001666469,0.0001457636,0.00003486202,0.00002723652,0.0002135945,0.00008393255,0.001086401],"genre_scores_gemma":[0.9976393,0.0002329439,0.001254916,0.00004641727,0.00004605298,0.00001255462,0.0001225832,0.00001252121,0.0006326867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00208186,"threshold_uncertainty_score":0.006964564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01596116676560656,"score_gpt":0.2368240721635669,"score_spread":0.2208629053979603,"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."}}