{"id":"W3034700374","doi":"10.1136/jmedgenet-2019-106756","title":"<i>SETD1B</i>-associated neurodevelopmental disorder","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"Canadian Institutes of Health Research; University of British Columbia; Genome British Columbia; Provincial Health Services Authority; BC Children's Hospital; Children's Hospital Foundation","keywords":"Exome sequencing; Intellectual disability; Exome; Neurodevelopmental disorder; Autism spectrum disorder; Medicine; Bioinformatics; Epilepsy; Autism; Genetics; Phenotype; Cohort; Global developmental delay; Biology; Psychiatry; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001676494,0.00009749221,0.0001452978,0.00001668369,0.0000347632,0.0000169158,0.0003479932,0.0001500214,0.0001829379],"category_scores_gemma":[0.000542407,0.00008036441,0.0001200719,0.00006627004,0.0000535272,0.000001427328,0.0001372822,0.0001723124,0.000008730822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006017957,"about_ca_system_score_gemma":0.0003967268,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":7.911927e-7,"about_ca_topic_score_gemma":0.000002699833,"domain_scores_codex":[0.9987776,0.00004202658,0.000328902,0.0001197181,0.0005807106,0.0001510872],"domain_scores_gemma":[0.9991176,0.000009344101,0.0001554011,0.00007475861,0.0001175457,0.0005253591],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001109664,0.002086331,0.0922214,0.0001595351,0.001503005,0.002134725,0.001186608,0.001621522,0.3032105,0.00008424601,0.4754674,0.1192151],"study_design_scores_gemma":[0.004343364,0.00189434,0.03133141,0.0000495044,0.0001162924,0.0004015139,0.0004096015,0.000876527,0.01466596,0.00005233167,0.9453833,0.0004758296],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922046,0.002772534,0.0006520404,0.003867578,0.0002889092,0.00003979409,0.00001251361,0.000003010602,0.0001590192],"genre_scores_gemma":[0.9908225,0.002340574,0.0003493602,0.0058998,0.0005147854,5.269894e-7,0.00001684687,0.00001682784,0.00003879445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4699159,"threshold_uncertainty_score":0.3277166,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01000678243383953,"score_gpt":0.2433272349783604,"score_spread":0.2333204525445209,"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."}}