{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003176653,0.0005364615,0.0003327261,0.0009583342,0.000362348,0.0002971556,0.0003409349,0.0003666411,0.00270499],"category_scores_gemma":[0.0009054444,0.000124624,0.0002283647,0.0003944246,0.0003648891,0.0001862878,0.0006299081,0.0004411921,0.0002827184],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000205691,"about_ca_system_score_gemma":0.0002457183,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001028605,"about_ca_topic_score_gemma":0.001354399,"domain_scores_codex":[0.9997848,0.00003480396,0.00002931187,0.00007592278,0.00005469305,0.00002044034],"domain_scores_gemma":[0.9997748,0.00007449844,0.00004970879,0.00002052683,0.00002479678,0.00005572337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008721073,0.0002292742,0.6052303,0.0001757279,0.0001233722,0.01816548,0.0008612435,0.0008827876,0.3372112,0.0006481847,0.0006448172,0.03495551],"study_design_scores_gemma":[0.00009819314,0.0005470833,0.8449923,0.00007885919,0.000117785,0.1064282,0.0004459374,0.00199008,0.04022166,0.0006318561,0.004423467,0.00002455566],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981306,0.0003656035,0.000712265,0.00007383422,0.000003633201,0.00001531646,0.0002349123,0.000009414033,0.0004544457],"genre_scores_gemma":[0.9975102,0.0002647121,0.001289136,0.00005635921,0.000009616808,0.00002117182,0.0005736522,0.000007545239,0.0002675901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00270499,"threshold_uncertainty_score":0.009049058,"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."}}