{"id":"W2925089222","doi":"10.1016/j.euroneuro.2017.08.097","title":"AN INHERITED DISTAL 16P11.2 DELETION DEMONSTRATES VARIABLE EXPRESSIVITY AND INCOMPLETE PENETRANCE FOR PSYCHIATRIC ILLNESS AS WELL AS ASSOCIATION WITH RHIZOMELIC SHORTENING: A CASE REPORT","year":2019,"lang":"en","type":"article","venue":"European Neuropsychopharmacology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"Penetrance; Microdeletion syndrome; Copy-number variation; Genetics; Medicine; Speech delay; Brachycephaly; Psychosis; Schizophrenia (object-oriented programming); Epilepsy; Pediatrics; Psychiatry; Biology; Chromosome; Phenotype; Anatomy","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":[0.0002074348,0.001839566,0.0009364536,0.001627199,0.001113072,0.0008740737,0.001076456,0.002386945,0.002117637],"category_scores_gemma":[0.00140583,0.0008661192,0.0005854864,0.00112527,0.0014295,0.0006177651,0.001117912,0.001246851,0.0006492123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005033159,"about_ca_system_score_gemma":0.0004718587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002152083,"about_ca_topic_score_gemma":0.002182452,"domain_scores_codex":[0.9996226,0.00003102751,0.00003533593,0.0001617506,0.00005886943,0.00009040107],"domain_scores_gemma":[0.9990216,0.0003210562,0.0002442095,0.0001063155,0.00005555049,0.0002512153],"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":[0.00004560272,0.00002104244,0.006627988,0.0000190516,0.000009759724,0.9858873,0.0001395013,0.00004895421,0.005747504,0.0001116344,0.0001014889,0.00124005],"study_design_scores_gemma":[0.000008586064,0.00004322912,0.007371905,0.00000429945,0.0000165226,0.9910726,0.00006439063,0.0001043107,0.0009923824,0.00008478135,0.0002263768,0.00001062876],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945245,0.000841092,0.00175169,0.0004367656,0.00004840263,0.00003683483,0.0002280272,0.00006647789,0.002066181],"genre_scores_gemma":[0.9976813,0.0004047307,0.0007935466,0.00007743111,0.00009535077,0.000009544323,0.00009877481,0.00001742289,0.0008218057],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002386945,"threshold_uncertainty_score":0.007084191,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005207295950542302,"score_gpt":0.2440278981416477,"score_spread":0.2388206021911053,"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."}}