{"id":"W3160415993","doi":"10.1101/mcs.a006092","title":"Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>","year":2021,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital","funders":"College of Dental Medicine, Columbia University; National Center for Advancing Translational Sciences; Simons Foundation Autism Research Initiative; Strong; JPB Foundation","keywords":"Intellectual disability; Exome sequencing; Microcephaly; Hypotonia; Failure to thrive; Autism spectrum disorder; Phenotype; Neurodevelopmental disorder; Medicine; Autism; Genetics; Global developmental delay; Copy-number variation; Pediatrics; Biology; Psychiatry; 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":[0.0002074552,0.0006999333,0.0002556391,0.0008798682,0.0007229032,0.0004452691,0.0002970888,0.0005388106,0.002213696],"category_scores_gemma":[0.001329068,0.0001647065,0.0002454437,0.0005616604,0.0004472719,0.0002336414,0.0004860439,0.0002948626,0.0002685379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003840385,"about_ca_system_score_gemma":0.0002564897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005584727,"about_ca_topic_score_gemma":0.00587022,"domain_scores_codex":[0.9997407,0.00002386486,0.00003867064,0.00009847864,0.0000452034,0.00005317183],"domain_scores_gemma":[0.9996958,0.00008263002,0.0001046724,0.0000159891,0.00004003642,0.00006100064],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.000865161,0.0003128795,0.7518296,0.0001007768,0.0001100983,0.1745797,0.002798165,0.0007271244,0.04022041,0.0006923837,0.002643533,0.02512017],"study_design_scores_gemma":[0.0000605925,0.0005711107,0.7870232,0.00005850209,0.0001039187,0.1981462,0.0008566657,0.000910982,0.008576107,0.0005186274,0.003131532,0.00004262483],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984049,0.00008576004,0.0001571366,0.00006592523,0.000005357932,0.00002253387,0.000301724,0.00001739689,0.0009392898],"genre_scores_gemma":[0.9984009,0.00009358521,0.0005055224,0.0000750121,0.00001107893,0.0000173914,0.0004238859,0.000009376115,0.0004633614],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005584727,"threshold_uncertainty_score":0.0111044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009293460660481126,"score_gpt":0.2408001387070485,"score_spread":0.2315066780465674,"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."}}