{"id":"W4405793404","doi":"10.1007/s00277-024-06158-0","title":"Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients","year":2024,"lang":"en","type":"article","venue":"Annals of Hematology","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary","funders":"","keywords":"Medicine; Von Willebrand disease; Carrier testing; Factor IX; Haemophilia A; Hematology; Genetic counseling; Genetic testing; Coagulopathy; Internal medicine; Von Willebrand factor; Immunology; Genetics; Haemophilia; Prenatal diagnosis; Pediatrics; Biology; Platelet; Pregnancy","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":[0.0003150462,0.001011896,0.0005456302,0.002186556,0.003015017,0.0008230802,0.0007112073,0.00155168,0.005616991],"category_scores_gemma":[0.002540568,0.0006107541,0.0005896194,0.0006783408,0.0007877136,0.0007394563,0.0007279828,0.0009275157,0.0006281177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005348942,"about_ca_system_score_gemma":0.0005137339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002841119,"about_ca_topic_score_gemma":0.001709789,"domain_scores_codex":[0.9994999,0.00008193154,0.00005314736,0.0001357497,0.00008885072,0.0001404021],"domain_scores_gemma":[0.9989653,0.0002713868,0.0001459961,0.00005401618,0.0001272429,0.0004361819],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003072947,0.0004457207,0.3302746,0.00003496516,0.00003104002,0.6588869,0.001757558,0.00008796454,0.003556403,0.0001488905,0.0004557149,0.004013021],"study_design_scores_gemma":[0.00003103435,0.0008918121,0.1708566,0.0000189224,0.00005108249,0.8216155,0.002939722,0.0002741765,0.001662424,0.0001318181,0.001501187,0.00002578696],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997131,0.0002231405,0.0001705874,0.00033057,0.00003370052,0.00002371784,0.00007271785,0.00001103124,0.002003443],"genre_scores_gemma":[0.9984005,0.000165206,0.0002281176,0.0001900027,0.000108219,0.000008651091,0.00008068685,0.00001172447,0.0008068435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005616991,"threshold_uncertainty_score":0.01879072,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06843703143780681,"score_gpt":0.3144783161153445,"score_spread":0.2460412846775377,"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."}}