{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001587116,0.001271019,0.0003938841,0.0007962294,0.001506745,0.000558266,0.0005318664,0.0006476337,0.008898069],"category_scores_gemma":[0.0006971366,0.0001076234,0.0003000497,0.00083118,0.0008003543,0.0002147638,0.000822234,0.0005811288,0.0009032071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009762197,"about_ca_system_score_gemma":0.0008437451,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01021809,"about_ca_topic_score_gemma":0.01223579,"domain_scores_codex":[0.9998066,0.00001785835,0.00002067359,0.00006123794,0.00005301826,0.00004064322],"domain_scores_gemma":[0.9997885,0.00004236629,0.00006330844,0.000009748002,0.00003660498,0.00005961662],"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":[0.0008730918,0.0002550709,0.2762252,0.0009302096,0.0003656719,0.4635181,0.001447685,0.001383185,0.07298604,0.01394354,0.05879884,0.1092734],"study_design_scores_gemma":[0.00008557667,0.0001787309,0.220338,0.0005076957,0.0001919937,0.7052678,0.0006426565,0.001331447,0.01263913,0.003492637,0.05527944,0.00004484861],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8818995,0.00908835,0.003945213,0.005052942,0.0004480243,0.0002474728,0.01148599,0.0005661026,0.0872664],"genre_scores_gemma":[0.9790148,0.002098791,0.002957176,0.001871827,0.0001028104,0.00008269594,0.002655616,0.00007668532,0.01113953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01021809,"threshold_uncertainty_score":0.02976704,"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."}}