{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004693516,0.0004210543,0.0005419802,0.0003293279,0.0003106322,0.0002544081,0.0001869067,0.000356603,0.0001924691],"category_scores_gemma":[0.0001856974,0.0003868843,0.0003735586,0.0008128899,0.0001070493,0.0002716786,0.0001056808,0.0004375426,0.0001721877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002214559,"about_ca_system_score_gemma":0.000289258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002223671,"about_ca_topic_score_gemma":0.00004706726,"domain_scores_codex":[0.9973084,0.00003830314,0.0006723006,0.0007855843,0.0004626999,0.000732652],"domain_scores_gemma":[0.9987278,0.0002059877,0.0001151949,0.0004276585,0.0002413973,0.0002819633],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008093772,0.0005387311,0.0008657497,0.002931087,0.001108318,0.0007619323,0.002985134,0.001807731,0.7023028,0.004632345,0.08260921,0.1986476],"study_design_scores_gemma":[0.01010369,0.0009580692,0.006779109,0.00287133,0.001544076,0.003061504,0.003374001,0.4019877,0.05182799,0.001758302,0.5140468,0.001687396],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1916914,0.024769,0.7589111,0.00777072,0.002409534,0.004169666,0.0004010986,0.001902764,0.007974746],"genre_scores_gemma":[0.8019611,0.0005029414,0.1854644,0.00290334,0.0009671654,0.0002774866,0.001422438,0.0002925863,0.006208574],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.6504748,"threshold_uncertainty_score":0.9998583,"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."}}