{"id":"W3131758814","doi":"10.1038/s41436-021-01246-2","title":"Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Medical Research Council; Epilepsy Society; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; University College London; Ataxia UK; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Muscular Dystrophy UK; Cancer Research UK; Erasmus Medisch Centrum; Brain Research UK; Regione Toscana; Brain and Behavior Research Foundation; Department of Health and Social Care; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; King Abdullah University of Science and Technology; National Alliance for Research on Schizophrenia and Depression; ZonMw; Johns Hopkins University; Muscular Dystrophy Association","keywords":"Penetrance; Intellectual disability; Cohort; Phenotype; Epilepsy; Autism spectrum disorder; Autism; Genetics; Neurodevelopmental disorder; Medicine; Copy-number variation; Biology; Bioinformatics; Neuroscience; Genome; Psychiatry; Internal medicine; 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":[0.0001734009,0.00009199399,0.0001287425,0.00001699256,0.00004870384,0.000004618824,0.000167073,0.00006437647,0.00002200686],"category_scores_gemma":[0.0001509302,0.00005459506,0.00003846379,0.0001412873,0.0001833878,4.611424e-7,0.0001808486,0.00008880583,5.185502e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004940268,"about_ca_system_score_gemma":0.00007022738,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001787799,"about_ca_topic_score_gemma":0.00005859854,"domain_scores_codex":[0.9992539,0.00007184364,0.0002341451,0.0001908218,0.0001137979,0.0001354975],"domain_scores_gemma":[0.9994514,0.00001695679,0.00006904585,0.0003783393,0.00004884594,0.00003539661],"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":[0.00002599251,0.00008079052,0.05226904,0.00008760005,0.0001405805,0.0001360453,0.00049364,0.002834378,0.9385441,0.001258715,0.0004030163,0.003726092],"study_design_scores_gemma":[0.004274627,0.0007179434,0.405172,0.0004625131,0.000387445,0.001507446,0.003012566,0.003377173,0.5556956,0.01257523,0.01215125,0.0006661689],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.975188,0.02243668,0.0001134639,0.001633146,0.0001535178,0.0001044142,0.000006876306,0.000001664961,0.0003622977],"genre_scores_gemma":[0.9982111,0.0008694897,0.0001934407,0.0005044414,0.00005001275,0.000003579529,0.00002387561,0.00001208324,0.0001319943],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3828485,"threshold_uncertainty_score":0.2226322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006028868299557043,"score_gpt":0.2326719863850904,"score_spread":0.2266431180855333,"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."}}