{"id":"W4313856441","doi":"10.1016/j.rpth.2023.100036","title":"F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project","year":2023,"lang":"en","type":"article","venue":"Research and Practice in Thrombosis and Haemostasis","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"European Association for Haemophilia and Allied Disorders; Hospital for Sick Children; Stichting Haemophilia; Novo Nordisk; Swedish Orphan Biovitrum; Inselspital, Universitätsspital Bern; CSL Behring; Bayer; Pfizer","keywords":"Haemophilia; Cohort; Medicine; Disease; Patient registry; Locus (genetics); Population; Disease control; Genetics; Pediatrics; Biology; Internal medicine; Gene; Environmental health","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00267256,0.0003068791,0.0005585941,0.001893965,0.0003814313,0.001305157,0.0006107492,0.0006218763,0.002324396],"category_scores_gemma":[0.008088859,0.0004554155,0.0005727938,0.002653629,0.0002979125,0.00113357,0.0009652164,0.0006896569,0.0003512458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003750753,"about_ca_system_score_gemma":0.0004018729,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007967044,"about_ca_topic_score_gemma":0.005487697,"domain_scores_codex":[0.9974136,0.0006093337,0.0003700981,0.0009997799,0.000384609,0.0002225578],"domain_scores_gemma":[0.9941669,0.001445687,0.002811403,0.000773113,0.000415932,0.0003869596],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003175747,0.00003655111,0.9981058,0.00001233932,0.00012102,0.0001112844,0.00008637521,0.00008599581,0.0001074735,0.0000582892,0.0002868923,0.0006704578],"study_design_scores_gemma":[0.00004612304,0.0001172559,0.9978973,0.00001466343,0.00008944827,0.0005879625,0.0002926652,0.0004130845,0.00006259485,0.00003880085,0.0004332948,0.000006851415],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961582,0.0001601909,0.000104096,0.00002826181,0.000009268841,0.00001614642,0.003041642,0.000004675072,0.0004775732],"genre_scores_gemma":[0.993444,0.0001751075,0.0001169581,0.00003014626,0.00001745227,0.00004658034,0.005984549,0.00000784137,0.0001774124],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007967044,"threshold_uncertainty_score":0.01584136,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1350322707458995,"score_gpt":0.4181192975769847,"score_spread":0.2830870268310852,"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."}}