{"id":"W2513825725","doi":"10.1182/blood.v124.21.2692.2692","title":"Compound Heterozygosity for Hb S and a Novel Deletion of Dnase I Hypersensitivity Sites HS3 and HS4 of β-Globin Locus Control Region Results in Hb S/β+-Thalassemia Phenotype","year":2014,"lang":"en","type":"article","venue":"Blood","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; University of Toronto","funders":"","keywords":"Biology; Compound heterozygosity; Genetics; Locus control region; Locus (genetics); Globin; Fetal hemoglobin; Thalassemia; Molecular biology; Missense mutation; Point mutation; Loss of heterozygosity; Allele; Hemoglobinopathy; Phenotype; Gene; Hemolytic anemia; Mutation; Immunology; Gene expression; Promoter","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":[0.0000963316,0.0005935254,0.0002159894,0.0005781267,0.0001541129,0.0001456378,0.0001618753,0.0003328514,0.004268885],"category_scores_gemma":[0.0001696807,0.0001396434,0.0003329088,0.0002484605,0.0004092985,0.00007906042,0.0002137112,0.0002207061,0.0004765575],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008650964,"about_ca_system_score_gemma":0.0001124834,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003887079,"about_ca_topic_score_gemma":0.0004514759,"domain_scores_codex":[0.9999039,0.00001548843,0.00001362012,0.00002512124,0.00002423582,0.00001762708],"domain_scores_gemma":[0.9998241,0.00004824851,0.00005649452,0.000008206052,0.000008343717,0.0000545992],"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":[0.00107552,0.0002383317,0.06338515,0.0001243993,0.0001950088,0.0501668,0.0002569292,0.0003990665,0.8711632,0.0007802561,0.0008879349,0.01132733],"study_design_scores_gemma":[0.0003288423,0.002640344,0.5279266,0.00008211061,0.0002964314,0.2584739,0.0003289047,0.002631658,0.2005626,0.0009212546,0.005742534,0.00006500299],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977788,0.0001396274,0.0008855017,0.00002606545,0.00001742089,0.00001538199,0.000280496,0.00006577289,0.0007909921],"genre_scores_gemma":[0.9983789,0.00008706684,0.0005579715,0.00002227244,0.00001180141,0.00000532251,0.000316234,0.000009091636,0.0006113735],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004268885,"threshold_uncertainty_score":0.01428086,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01163888989864774,"score_gpt":0.2263450932094646,"score_spread":0.2147062033108168,"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."}}