{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003146719,0.000169179,0.0003814294,0.00005865614,0.0001244496,0.000009200886,0.0001901752,0.0001093132,0.00004001956],"category_scores_gemma":[0.0005873897,0.00009635017,0.0001555331,0.0003015448,0.0005824308,0.00005103059,0.0002119678,0.0002429542,0.000004990115],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005917987,"about_ca_system_score_gemma":0.0001856351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001665509,"about_ca_topic_score_gemma":0.00001478145,"domain_scores_codex":[0.9981991,0.0001309992,0.0005503371,0.0002703754,0.0006208814,0.0002283092],"domain_scores_gemma":[0.9984567,0.0002319706,0.0002766592,0.0003919541,0.0005002189,0.0001425612],"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":[0.002875916,0.002209697,0.2267961,0.002141796,0.001147653,0.00003956398,0.004603378,0.00006619606,0.7003679,0.01029085,0.004183628,0.0452774],"study_design_scores_gemma":[0.01124535,0.004919176,0.5046278,0.0007945739,0.0005061403,0.00002491443,0.0007940209,0.004252812,0.4643064,0.006000016,0.002151262,0.0003774755],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.981674,0.0008448963,0.00006138602,0.01536392,0.0001243542,0.0007212326,0.00005515105,0.00001397916,0.001141054],"genre_scores_gemma":[0.999134,0.0002662657,0.0001309531,0.0001526877,0.0000777066,0.00001559524,0.00003507288,0.00002121576,0.0001664996],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2778318,"threshold_uncertainty_score":0.3929046,"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."}}