{"id":"W4413387568","doi":"10.1016/j.gim.2025.101561","title":"A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Hospital for Sick Children; Institute for Clinical Evaluative Sciences; SickKids Foundation","funders":"EuroQol Research Foundation; Canada Excellence Research Chairs, Government of Canada; Genome Canada; Canadian Fertility and Andrology Society; ACMG Foundation for Genetic and Genomic Medicine; Ontario Ministry of Health and Long-Term Care; Pharmaceutical Research and Manufacturers of America Foundation","keywords":"Exome sequencing; Exome; Randomized controlled trial; DNA sequencing; Medicine; Cancer genome sequencing; Computational biology; Whole genome sequencing; Personal genomics; Genetics; Genome; Biology; Bioinformatics; Mutation; Gene; 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":[0.02176506,0.003170185,0.005237669,0.001555888,0.0005769886,0.002157805,0.002006527,0.003195284,0.01491622],"category_scores_gemma":[0.03688416,0.001032813,0.01283021,0.001017102,0.001718085,0.002400179,0.001672198,0.004920413,0.0005637917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003647737,"about_ca_system_score_gemma":0.00284358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002337781,"about_ca_topic_score_gemma":0.001924596,"domain_scores_codex":[0.9661164,0.02908789,0.001038902,0.001549405,0.001001422,0.001206003],"domain_scores_gemma":[0.9577039,0.03406394,0.004493931,0.001340665,0.0009245838,0.001472941],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.9587789,0.003722229,0.002548817,0.002074446,0.01507439,0.0001353062,0.00005849745,0.003708878,0.0003001493,0.000819454,0.0008994837,0.01187941],"study_design_scores_gemma":[0.819474,0.1049665,0.007301216,0.0006630219,0.03729673,0.0001648772,0.0001732809,0.02511563,0.0007241915,0.00279596,0.001214308,0.0001102597],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9419146,0.01316415,0.01453422,0.003210988,0.002158344,0.01811404,0.002869125,0.0002426338,0.003791857],"genre_scores_gemma":[0.9821557,0.00126537,0.005179482,0.001055617,0.0004753062,0.007692536,0.0007397622,0.00002102011,0.001415125],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02176506,"threshold_uncertainty_score":0.115106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01946951498100514,"score_gpt":0.2829800065866623,"score_spread":0.2635104916056572,"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."}}