{"id":"W3093984660","doi":"10.1111/hae.14179","title":"The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole <i>F8</i> gene sequencing and functional assays","year":2020,"lang":"en","type":"article","venue":"Haemophilia","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; Centre Hospitalier Universitaire Sainte-Justine","funders":"CSL Behring; Bayer","keywords":"Minigene; Genetics; Gene; RNA splicing; Biology; Untranslated region; Coding region; Deep sequencing; Alternative splicing; Human genome; Computational biology; Genome; Messenger RNA; RNA","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":[0.001162577,0.0005445134,0.0004540672,0.0005464692,0.000499028,0.0008989118,0.000587082,0.0008698592,0.001126597],"category_scores_gemma":[0.002600903,0.0001102326,0.000225497,0.0002420708,0.0007239773,0.000490565,0.0003466937,0.0008691985,0.0003966209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005591212,"about_ca_system_score_gemma":0.0007479014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006009243,"about_ca_topic_score_gemma":0.005250115,"domain_scores_codex":[0.9996315,0.0001022838,0.00002496153,0.0000770756,0.0001060194,0.00005816402],"domain_scores_gemma":[0.9987283,0.000558628,0.0001503535,0.00005846456,0.0002974134,0.0002067923],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001086179,0.000211484,0.6759514,0.0004276383,0.000109003,0.02389619,0.002279241,0.001933268,0.1257509,0.001298459,0.004580784,0.1624753],"study_design_scores_gemma":[0.00009305749,0.001673575,0.7470731,0.0004131397,0.0003929028,0.133236,0.00980708,0.0131474,0.04873896,0.005515278,0.03975504,0.0001545677],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814399,0.006545119,0.004144231,0.004128223,0.0000937946,0.00003887072,0.000281805,0.00008208788,0.003245991],"genre_scores_gemma":[0.9860228,0.002677772,0.008829295,0.001103772,0.0002279819,0.00002388438,0.0003258506,0.00003209742,0.000756352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006009243,"threshold_uncertainty_score":0.01194853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06322226963510277,"score_gpt":0.2689432767765403,"score_spread":0.2057210071414375,"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."}}