{"id":"W2918032742","doi":"10.1182/blood-2018-99-111791","title":"The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events","year":2018,"lang":"en","type":"article","venue":"Blood","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Haemophilia; Haemophilia A; Intron; Haplotype; Founder effect; Genetics; Biology; Genotype; Gene; Internal medicine; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002302877,0.0003054042,0.000328381,0.0009154376,0.0004501134,0.0002555012,0.0001813467,0.0003573529,0.002267798],"category_scores_gemma":[0.001007829,0.0001151134,0.0002451758,0.0005756071,0.00030813,0.0001091655,0.0001889322,0.0002213288,0.0002457038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001899295,"about_ca_system_score_gemma":0.000227421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004111751,"about_ca_topic_score_gemma":0.004004555,"domain_scores_codex":[0.9997494,0.00005127363,0.00002623523,0.00007226053,0.00005727449,0.00004350653],"domain_scores_gemma":[0.9992625,0.0002132526,0.0003008035,0.00005927049,0.00005999746,0.0001041371],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005187161,0.00004637239,0.9310686,0.00003939547,0.0001213576,0.00648933,0.0005209168,0.0003200638,0.04810419,0.0001576417,0.0001961351,0.01241727],"study_design_scores_gemma":[0.00003705608,0.0001921709,0.970424,0.00001340599,0.00009336622,0.02382394,0.0001923751,0.0004279561,0.003338558,0.0001123816,0.001329315,0.00001545417],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995261,0.00007468789,0.0002111521,0.000007183407,0.000001006742,0.000003066733,0.00005616267,0.000003536864,0.0001171756],"genre_scores_gemma":[0.9995674,0.00002975513,0.0001855465,0.000008637471,0.000004260972,0.00000348426,0.0001163791,0.000001806933,0.00008259877],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004111751,"threshold_uncertainty_score":0.008175611,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01845797278473004,"score_gpt":0.3074513590434022,"score_spread":0.2889933862586722,"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."}}