{"id":"W4393853303","doi":"10.1136/bmjopen-2023-081426","title":"Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol","year":2024,"lang":"en","type":"article","venue":"BMJ Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; St. Michael's Hospital","funders":"State Government of Victoria; Canada Research Chairs; Australian Government; Children's Hospital Foundation; Royal Children's Hospital Foundation; Murdoch Children's Research Institute; Children’s Hospital of Wisconsin Research Institute","keywords":"Medicine; Family medicine; Referral; Genetic testing; Public health; Pediatrics; Nursing; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0247697,0.003242503,0.002955676,0.002058528,0.002680321,0.002244499,0.003254831,0.003180094,0.03714003],"category_scores_gemma":[0.01709973,0.003616219,0.001646123,0.002605949,0.001419706,0.002512736,0.001890249,0.003742598,0.01475211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002168784,"about_ca_system_score_gemma":0.01114582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008161234,"about_ca_topic_score_gemma":0.01124905,"domain_scores_codex":[0.989153,0.005952546,0.00147523,0.001616247,0.0008680451,0.0009348117],"domain_scores_gemma":[0.991703,0.001730987,0.0009957209,0.00151599,0.00248593,0.001568338],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.1099449,0.02454812,0.192441,0.05187713,0.002201088,0.008808917,0.02321281,0.004886226,0.008477049,0.02339897,0.4173493,0.1328545],"study_design_scores_gemma":[0.08070647,0.06044787,0.3759187,0.01583599,0.001961829,0.004127936,0.01298429,0.008178259,0.003730724,0.01489928,0.420342,0.0008665725],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.01679547,0.000718496,0.00714675,0.0006085365,0.0003967768,0.9486877,0.02193671,0.0001522168,0.00355731],"genre_scores_gemma":[0.01638154,0.0003060453,0.005499885,0.0006197463,0.00007183682,0.9716762,0.004333848,0.00002025088,0.001090617],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.03714003,"threshold_uncertainty_score":0.1309963,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05396369063926455,"score_gpt":0.3935434058033437,"score_spread":0.3395797151640791,"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."}}