{"id":"W3109333644","doi":"10.1126/sciadv.abc9207","title":"Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients","year":2020,"lang":"en","type":"article","venue":"Science Advances","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shared Services Canada; Mount Sinai Hospital; University of British Columbia; Hospital for Sick Children; SickKids Foundation; Newborn Screening Ontario; University of Toronto; University of Calgary; Children's Hospital of Eastern Ontario; Alberta Children's Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Canadian Institutes of Health Research; Fondazione Bambino Gesù; National Institute of Diabetes and Digestive and Kidney Diseases; Simons Foundation Autism Research Initiative; Eesti Teadusfondi; National Institute of Dental and Craniofacial Research; Ontario Genomics Institute; National Heart, Lung, and Blood Institute; Ministero della Salute; Genome Canada; Dipartimenti di Eccellenza; Fondation Maladies Rares; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Institutes of Health; Ontario Genomics; National Human Genome Research Institute; Agence Nationale de la Recherche; National Cancer Institute; Genomic Health","keywords":"Germline; Histone; Germline mutation; Genetics; Cancer; Biology; Mutation; Epigenetics; Cancer research; Medicine; DNA; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001156121,0.0001605895,0.0001495063,0.00009491367,0.0001364042,0.00003350614,0.0002316019,0.00003608089,0.000004201407],"category_scores_gemma":[0.0001233388,0.0001610895,0.00002100134,0.0006134075,0.0004610964,0.0000378818,0.0001546382,0.00008918123,0.00000206876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003194193,"about_ca_system_score_gemma":0.0001828535,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001086756,"about_ca_topic_score_gemma":0.002522341,"domain_scores_codex":[0.9985321,0.00004335182,0.0002603036,0.0006412668,0.0002161138,0.0003069218],"domain_scores_gemma":[0.9995699,0.000009435738,0.00008424187,0.0001390476,0.00007861331,0.0001187502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00005712536,0.0001546762,0.07216615,0.00003074002,0.000004722954,0.00000616148,0.001286697,0.00273934,0.908464,0.00001795953,0.0001175502,0.01495483],"study_design_scores_gemma":[0.003492817,0.0007437794,0.7691228,0.00005485786,0.00002289295,0.000002858662,0.001216351,0.000850786,0.208051,0.0002612239,0.0152711,0.0009094764],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930903,0.005615901,0.00007593957,0.0005283265,0.0001733554,0.0003197679,0.00003050228,0.000006807445,0.0001591359],"genre_scores_gemma":[0.9958802,0.002359399,0.0003848665,0.001130785,0.00001037735,0.00006127841,0.00004718958,0.00001334419,0.0001125209],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.700413,"threshold_uncertainty_score":0.6569038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01045934901837163,"score_gpt":0.2850120905523971,"score_spread":0.2745527415340255,"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."}}