{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005528541,0.0001392253,0.00011818,0.00001034637,0.00006979309,0.00003040058,0.0001693683,0.0001317174,0.00006165904],"category_scores_gemma":[0.00002447259,0.0001370184,0.00005695032,0.00005959856,0.00003614121,0.000003144558,0.00009214646,0.00005903023,0.00005320345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004563277,"about_ca_system_score_gemma":0.0000320059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000114734,"about_ca_topic_score_gemma":0.000006850384,"domain_scores_codex":[0.9990705,0.00004525583,0.0001598151,0.0003925733,0.00009542084,0.0002364742],"domain_scores_gemma":[0.9995207,0.000003008645,0.00004911782,0.000232781,0.00004303032,0.0001513623],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000006496021,0.00002880765,0.004261057,0.0000128587,0.00002219966,3.984686e-7,0.00006400856,0.00004470192,0.9781662,0.000006490511,0.006604767,0.01078197],"study_design_scores_gemma":[0.000703299,0.0007202844,0.02767435,0.000006073461,0.0000329313,0.00001570069,0.0001762846,0.0007631101,0.4630325,0.00002708448,0.5064197,0.0004286573],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921501,0.002001089,0.004528109,0.0009079147,0.00014551,0.0001164824,0.00001430552,0.00002594248,0.0001105894],"genre_scores_gemma":[0.995871,0.0002198475,0.001543224,0.001479461,0.0003824391,0.000008290219,0.0002150648,0.00002933358,0.0002513504],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5151337,"threshold_uncertainty_score":0.5587447,"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."}}