{"id":"W3008507762","doi":"10.1111/jth.14771","title":"The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events","year":2020,"lang":"en","type":"article","venue":"Journal of Thrombosis and Haemostasis","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen's University","funders":"","keywords":"Haplotype; Minigene; Intron; Genetics; Biology; Founder effect; RNA splicing; Haemophilia A; Gene; Molecular biology; Genotype; Haemophilia; RNA","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":[0.000416124,0.0006610095,0.0006668431,0.001657168,0.0006840892,0.0003799601,0.0003497472,0.0007744672,0.005207315],"category_scores_gemma":[0.002320321,0.000151701,0.0005562233,0.001007366,0.0005347614,0.0001983364,0.0001930472,0.000388838,0.0005189558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002160403,"about_ca_system_score_gemma":0.0003350897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00395873,"about_ca_topic_score_gemma":0.006135126,"domain_scores_codex":[0.9995515,0.0001239099,0.00006687734,0.0001031619,0.00009109206,0.00006352716],"domain_scores_gemma":[0.9983577,0.0006869896,0.0005787009,0.0001045306,0.0001338993,0.0001382228],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001955183,0.0001567991,0.7630368,0.000257503,0.0006255874,0.03791679,0.001909356,0.0008923054,0.1334614,0.001478784,0.001728358,0.05658107],"study_design_scores_gemma":[0.0001555337,0.000548314,0.8774601,0.0001114198,0.0004703583,0.09415659,0.0007376836,0.0008718292,0.01462808,0.0006703194,0.0101163,0.00007356231],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995513,0.0007629113,0.001360379,0.0001393603,0.00003478525,0.00002347364,0.0006831973,0.00004132305,0.001441536],"genre_scores_gemma":[0.998242,0.0001404401,0.0007680232,0.00006487796,0.0000405189,0.0000101172,0.0002963879,0.00001239525,0.0004251728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005207315,"threshold_uncertainty_score":0.01742023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05437162158383697,"score_gpt":0.34084692275762,"score_spread":0.2864753011737831,"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."}}