{"id":"W2419183473","doi":"10.1111/bjh.14131","title":"Clinical utility of next‐generation sequencing in the diagnosis of hereditary haemolytic anaemias","year":2016,"lang":"en","type":"article","venue":"British Journal of Haematology","topic":"Neonatal Health and Biochemistry","field":"Medicine","cited_by":97,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"DNA sequencing; Haemolytic disease; Gene; Medicine; Biology; Computational biology; Genetics; Bioinformatics; Pregnancy","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":[0.001925228,0.0004051875,0.0004480477,0.001286105,0.0002370806,0.0007078517,0.0003055065,0.0006626031,0.0007065776],"category_scores_gemma":[0.003577492,0.0002162121,0.0002176625,0.0005285302,0.0003450185,0.0002242401,0.0003670881,0.0004260675,0.0002941248],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000303876,"about_ca_system_score_gemma":0.0003006502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009377862,"about_ca_topic_score_gemma":0.001395364,"domain_scores_codex":[0.9989873,0.000483082,0.00008214184,0.0001421234,0.0002429902,0.0000624319],"domain_scores_gemma":[0.9983214,0.001084866,0.0001816432,0.00006920051,0.0002330593,0.0001098727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00236643,0.0002540125,0.2726074,0.0005296392,0.0002641464,0.009362113,0.0009296632,0.008896366,0.4283233,0.00140192,0.003124187,0.2719408],"study_design_scores_gemma":[0.0002421439,0.00259832,0.476428,0.0007594431,0.0008375628,0.05079938,0.0009788227,0.09315356,0.3171621,0.007020189,0.04982873,0.0001917353],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9330979,0.01301416,0.04363526,0.001422085,0.000248052,0.0002010935,0.001036724,0.0003865407,0.006958121],"genre_scores_gemma":[0.9463162,0.003095199,0.04851364,0.0006470055,0.00007396716,0.00006517558,0.0005427568,0.00003551638,0.0007104755],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001925228,"threshold_uncertainty_score":0.01018173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1227741417960978,"score_gpt":0.3655510035409665,"score_spread":0.2427768617448687,"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."}}