{"id":"W2413084409","doi":"10.1136/jmedgenet-2015-103577.29","title":"MG-140 17Q21.31 microdeletion syndrome: A description of two cases","year":2015,"lang":"en","type":"article","venue":"","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Hypotonia; Microdeletion syndrome; Comparative genomic hybridization; Intellectual disability; Pediatrics; Medicine; Genetics; Craniofacial abnormality; Dysplasia; Laryngomalacia; Medical genetics; Genetic counseling; Craniofacial; Phenotype; Biology; Pathology; Gene; Surgery; Genome","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":[0.0004035677,0.002220526,0.0009633417,0.00289132,0.001512408,0.001421006,0.001310672,0.003091148,0.00301029],"category_scores_gemma":[0.002849589,0.001195207,0.0006889635,0.001542183,0.001923754,0.0009801441,0.002128777,0.001302988,0.001243855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007393084,"about_ca_system_score_gemma":0.0004474033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001880945,"about_ca_topic_score_gemma":0.001218608,"domain_scores_codex":[0.9991567,0.00008372391,0.0001170387,0.0002443682,0.0001495574,0.0002484984],"domain_scores_gemma":[0.9988407,0.0002725403,0.000287866,0.0001317265,0.00007191723,0.0003951325],"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":[0.0001017155,0.0001517395,0.03540303,0.00008244207,0.00003139062,0.947538,0.001206167,0.0001660301,0.005685159,0.0006705661,0.0007287317,0.008235049],"study_design_scores_gemma":[0.00002241375,0.00008239485,0.01259841,0.00001269562,0.00001583493,0.9840716,0.0002105977,0.0001296835,0.001003768,0.000149121,0.001684323,0.00001916656],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858028,0.00228338,0.002348408,0.0004971705,0.0001500551,0.0002326792,0.0002975955,0.0002170863,0.008170786],"genre_scores_gemma":[0.9950777,0.0009853437,0.001426709,0.0002080358,0.0002127455,0.0001097964,0.00024116,0.00003785182,0.001700766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003091148,"threshold_uncertainty_score":0.01007044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02960390093250573,"score_gpt":0.245766198195101,"score_spread":0.2161622972625953,"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."}}