{"id":"W2470146711","doi":"10.1182/blood-2015-12-688267","title":"A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders","year":2016,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":185,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Toronto; SickKids Foundation; Hospital for Sick Children; Queen's University; Health Sciences Centre","funders":"National Heart, Lung, and Blood Institute; NIHR BioResource; European Commission; Medical Research Council; British Society for Haematology; National Institute for Health and Care Research; Universitatea Sapientia; British Heart Foundation; Wellcome Trust; NHS Blood and Transplant; Bristol-Myers Squibb","keywords":"Platelet disorder; Platelet; Medicine; Etiology; Blood Platelet Disorders; Genetic testing; DNA sequencing; Gene; Internal medicine; Bioinformatics; Genetics; Biology; Platelet aggregation","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":[],"consensus_categories":[],"category_scores_codex":[0.00007366314,0.0001956477,0.0003592608,0.00006707256,0.0001268476,0.00002630231,0.00004496496,0.0001005119,0.00003186409],"category_scores_gemma":[0.0002695833,0.0001306424,0.0000628812,0.0001014868,0.00008614788,0.0001393466,0.00003241817,0.00005973209,0.00001248913],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004584689,"about_ca_system_score_gemma":0.0000500236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001183335,"about_ca_topic_score_gemma":0.00007050199,"domain_scores_codex":[0.9989794,0.000008450993,0.0001984286,0.0003373786,0.0001237005,0.0003525937],"domain_scores_gemma":[0.9992252,0.0003774803,0.0000690472,0.0001669768,0.00003990746,0.0001213834],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002973537,0.004638956,0.7032185,0.0006348288,0.001882167,0.0009349148,0.001451166,0.000002862876,0.2070535,0.001880999,0.00268832,0.07531641],"study_design_scores_gemma":[0.2288324,0.01303915,0.3861389,0.005903915,0.005768559,0.00288721,0.001629578,0.000438359,0.298692,0.03827267,0.01509966,0.003297651],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960823,0.0006457674,0.0003676119,0.001690877,0.00008846001,0.000613546,0.00005451687,0.000106205,0.0003507283],"genre_scores_gemma":[0.9948566,0.0007169227,0.003834986,0.0002196831,0.00009091293,0.00007326788,0.0000202373,0.00004230193,0.000145104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3170796,"threshold_uncertainty_score":0.5327441,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01728382452657655,"score_gpt":0.2542568578318436,"score_spread":0.2369730333052671,"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."}}