{"id":"W4393403224","doi":"10.1080/03630269.2024.2328220","title":"Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( <i>HBB</i> :c.336dup)","year":2024,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Proband; Frameshift mutation; Compound heterozygosity; Genetics; Thalassemia; Genotype; Newborn screening; Heterozygote advantage; Mutation; Chinese family; Exon; Biology; Gene; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009453281,0.0006751537,0.0002472265,0.0007436264,0.0006211788,0.0003753296,0.0003889153,0.0005794698,0.002371428],"category_scores_gemma":[0.0005667544,0.0001745998,0.0001536096,0.0003594742,0.0006567517,0.000155954,0.000279117,0.0005643498,0.0002891815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007988544,"about_ca_system_score_gemma":0.0007547328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04660348,"about_ca_topic_score_gemma":0.04651769,"domain_scores_codex":[0.9998795,0.000008164571,0.000006739849,0.00002207699,0.00004282517,0.0000406947],"domain_scores_gemma":[0.999863,0.0000390095,0.00002089277,0.00000446228,0.00001401142,0.00005860074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002228579,0.0001342631,0.1735199,0.000103361,0.00003882637,0.6859374,0.001980619,0.0002779205,0.1034833,0.001387295,0.002414246,0.03049996],"study_design_scores_gemma":[0.00002031814,0.0002930594,0.1822809,0.00005091822,0.00006526771,0.7829372,0.0006105285,0.00120297,0.02753001,0.0003135231,0.004666801,0.00002854826],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902883,0.0004745825,0.001095785,0.0005444889,0.00002168812,0.00004130742,0.0002533539,0.00006837723,0.007212137],"genre_scores_gemma":[0.9973177,0.0002759942,0.000902098,0.0001043509,0.00001283401,0.000003339434,0.00007709657,0.00001077175,0.001295768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04660348,"threshold_uncertainty_score":0.09266442,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03755761635271908,"score_gpt":0.2978909959219062,"score_spread":0.2603333795691871,"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."}}