{"id":"W3187986515","doi":"10.1101/2021.02.11.430742","title":"Delineating the molecular and phenotypic spectrum of the <i>SETD1B</i> -related syndrome","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Medical Research Council; Epilepsy Society; 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; Brain Research UK; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Regione Toscana; Department of Health and Social Care; King Abdullah University of Science and Technology; National Alliance for Research on Schizophrenia and Depression; ZonMw; Johns Hopkins University; Muscular Dystrophy Association","keywords":"Phenotype; Penetrance; Epigenetics; Intellectual disability; Epilepsy; Genetics; Biology; Autism spectrum disorder; Autism; Mechanism (biology); Cohort; Copy-number variation; Neurodevelopmental disorder; Epilepsy syndromes; Gene; Bioinformatics; Neuroscience; Genome; Medicine; Psychiatry; Internal medicine","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":[0.0002163152,0.0006823182,0.0002643424,0.0009105574,0.0003635121,0.0002900538,0.0003061301,0.0003667044,0.002721876],"category_scores_gemma":[0.000694941,0.0001413061,0.0002417137,0.0003548194,0.0004407205,0.0001477946,0.0005057192,0.0003475353,0.0002597539],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001440592,"about_ca_system_score_gemma":0.0001663373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00137262,"about_ca_topic_score_gemma":0.001253074,"domain_scores_codex":[0.9997944,0.00003173479,0.00002744564,0.00007254932,0.00004507784,0.00002885092],"domain_scores_gemma":[0.9997723,0.00007070445,0.00005350179,0.00001567388,0.00002420547,0.00006370296],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008226818,0.0001721417,0.5570889,0.0001132321,0.0001216422,0.03610628,0.0008059896,0.000645554,0.3829759,0.000804038,0.0007716009,0.01957201],"study_design_scores_gemma":[0.00008418486,0.0007322853,0.7985262,0.00005220048,0.0001266662,0.1551884,0.0005823249,0.00188302,0.03941115,0.0006070983,0.002776628,0.00002980947],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984685,0.0001099744,0.000564517,0.00005284257,0.000003870005,0.00001430701,0.0002340814,0.00001315745,0.0005387675],"genre_scores_gemma":[0.9987343,0.00008886144,0.0005968838,0.00003948836,0.000008051667,0.00001000927,0.0002803178,0.000008498669,0.000233649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002721876,"threshold_uncertainty_score":0.009105563,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00526248265738974,"score_gpt":0.1841360689221367,"score_spread":0.1788735862647469,"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."}}