{"id":"W2111276228","doi":"10.1080/03630260600642021","title":"Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening","year":2006,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Thalassemia; Point mutation; Newborn screening; Genetics; Mutation; Medicine; Biology; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001379313,0.0003148396,0.0004129348,0.0001148684,0.0002250426,0.00005236569,0.00013835,0.0003223199,0.0006401046],"category_scores_gemma":[0.0001136958,0.0002743402,0.000248479,0.0006159982,0.0001077412,0.0001917182,0.00006053611,0.000455384,0.0003439498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001252926,"about_ca_system_score_gemma":0.0002900868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00383746,"about_ca_topic_score_gemma":0.0003483073,"domain_scores_codex":[0.9980072,0.00002713665,0.0005035351,0.0004553453,0.0003993356,0.000607419],"domain_scores_gemma":[0.9989458,0.00007219246,0.0001225617,0.000482414,0.0001137926,0.0002632907],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006838323,0.001100571,0.06678332,0.000276664,0.0005046151,0.001106875,0.001286412,0.003187992,0.02191205,0.02149539,0.701731,0.1799313],"study_design_scores_gemma":[0.02036356,0.0009125625,0.1284212,0.001061757,0.000988317,0.00159894,0.002298385,0.01131906,0.01176849,0.04581294,0.7736788,0.001776026],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.3893686,0.004388743,0.3520877,0.0349586,0.0008061095,0.002035099,0.00003617196,0.001330235,0.2149887],"genre_scores_gemma":[0.8234242,0.000116602,0.15681,0.003005108,0.001106142,0.00004240458,0.0005096578,0.0001658774,0.01482004],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4340556,"threshold_uncertainty_score":0.9999709,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01475587870687162,"score_gpt":0.2579743366458862,"score_spread":0.2432184579390146,"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."}}