{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001033302,0.0001787075,0.0002028446,0.0000606148,0.00005555095,0.00001912126,0.00007335537,0.00005732134,0.000005771582],"category_scores_gemma":[0.00006672794,0.0001627728,0.00005061588,0.0002058796,0.0000725853,0.000003214709,0.0002256227,0.00007379003,0.000003365585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002013162,"about_ca_system_score_gemma":0.0001482341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001626659,"about_ca_topic_score_gemma":0.0004882519,"domain_scores_codex":[0.9989069,0.00009000854,0.0001982257,0.0004360556,0.0001051296,0.0002637111],"domain_scores_gemma":[0.9995949,0.000008604045,0.00004068006,0.0002336146,0.00007130438,0.0000508784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001370425,0.0007146131,0.1311849,0.0001332174,0.0007495065,0.2092319,0.001917538,0.0008648634,0.6501664,0.0003089947,0.0005006914,0.004090312],"study_design_scores_gemma":[0.01806037,0.001449997,0.3921724,0.0005341878,0.0004209466,0.04828081,0.02570706,0.00007753011,0.4884695,0.001895763,0.01830625,0.004625251],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891177,0.01017965,0.00004833279,0.0001095903,0.00006615305,0.0001377435,0.00004283013,0.000005351246,0.0002926503],"genre_scores_gemma":[0.9976687,0.0005579715,0.000943733,0.0006068354,0.0000215836,0.00004230763,0.0000736043,0.0000237883,0.00006140585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2609875,"threshold_uncertainty_score":0.6637682,"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."}}