{"id":"W2586152906","doi":"10.1182/blood.v112.11.5414.5414","title":"Relevance of α-Globin Genotyping in Patients Expressing HbH in Cord Blood: Prevalence of α-Globin Gene Deletions and α2-Globin Termination Codon Mutations in a Neonatal Hemoglobinopathy Screening Program","year":2008,"lang":"en","type":"article","venue":"Blood","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital Notre-Dame","funders":"","keywords":"Hemoglobinopathy; Thalassemia; Genetics; Biology; Alpha-thalassemia; Genotyping; Globin; Molecular biology; Genotype; Gene; Hemolytic anemia; Immunology","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":[0.000525216,0.0002489226,0.0002362782,0.0007829709,0.000396671,0.0004431055,0.000383697,0.0005731794,0.001339167],"category_scores_gemma":[0.003525495,0.0001936959,0.0001641415,0.0005008657,0.000410642,0.0003216131,0.0002490738,0.0004505212,0.0002369647],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003763836,"about_ca_system_score_gemma":0.0003281566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002910903,"about_ca_topic_score_gemma":0.001963018,"domain_scores_codex":[0.9992008,0.000265784,0.00009145129,0.0001851079,0.0001517176,0.0001051871],"domain_scores_gemma":[0.9982609,0.0005707924,0.0004588631,0.00006607993,0.0002116927,0.0004316265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006558547,0.00004783208,0.9980555,0.000003713909,0.000005682971,0.0005211011,0.00009256172,0.00002008337,0.000413903,0.000007813885,0.00003132677,0.0007349705],"study_design_scores_gemma":[0.00000570252,0.0003087698,0.9943474,0.00001035625,0.00001545095,0.003942071,0.0005147006,0.0003207084,0.0004179401,0.00001965936,0.00009271366,0.000004586367],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999751,0.0000476242,0.00002470067,0.00001902146,0.000002245515,0.000002021444,0.00002312871,0.000001055048,0.0001292283],"genre_scores_gemma":[0.9998677,0.00002418376,0.00003014983,0.000009548671,0.000004181802,0.000001916242,0.00003200029,5.484112e-7,0.00002976552],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002910903,"threshold_uncertainty_score":0.005787909,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01145388889599329,"score_gpt":0.2475104122271524,"score_spread":0.2360565233311592,"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."}}