{"id":"W4407006393","doi":"10.1093/hmg/ddaf015","title":"A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts","year":2025,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research","keywords":"Biology; Fetal hemoglobin; Disease; Genetics; Hemoglobin; Sickle cell anemia; Fetus; Hemoglobinopathy; Replication (statistics); Cell; Immunology; Hemolytic anemia; Pregnancy; Internal medicine; Virology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.002460769,0.0007400552,0.0007172833,0.0003697054,0.001270625,0.0007697186,0.0007546994,0.0008721187,0.00453752],"category_scores_gemma":[0.004595804,0.0003772166,0.001361202,0.0005614667,0.0003249091,0.0003291188,0.0008120175,0.001059048,0.001138442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003939288,"about_ca_system_score_gemma":0.0006303864,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006767625,"about_ca_topic_score_gemma":0.007024882,"domain_scores_codex":[0.9984445,0.0002593561,0.0001383931,0.0008480033,0.000174518,0.0001352423],"domain_scores_gemma":[0.9981546,0.0002546211,0.0001795837,0.0007669251,0.0004388141,0.0002054238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01105429,0.0005193595,0.8439897,0.0008692883,0.009412295,0.004871177,0.002003558,0.001152513,0.06091445,0.002004932,0.02494802,0.03826049],"study_design_scores_gemma":[0.00250381,0.001810424,0.946738,0.000168759,0.005302704,0.00449762,0.0004937627,0.001504871,0.005032179,0.00151915,0.03031857,0.0001101196],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9707497,0.001973373,0.00729758,0.0003217335,0.000268008,0.0003424128,0.01690637,0.0001609452,0.001979905],"genre_scores_gemma":[0.9816263,0.0004478747,0.002979744,0.0003965774,0.0000941311,0.0004864873,0.01119992,0.0001705993,0.002598391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006767625,"threshold_uncertainty_score":0.01517951,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0102077193044588,"score_gpt":0.268445778148221,"score_spread":0.2582380588437622,"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."}}