{"id":"W4415045110","doi":"10.1016/j.gim.2025.101605","title":"Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Hospital for Sick Children; SickKids Foundation; University of Toronto; Children's Hospital of Eastern Ontario; Institute for Clinical Evaluative Sciences","funders":"Canada Research Chairs; Ontario Genomics Institute; Genome Canada","keywords":"Exome sequencing; Rare disease; Exome; Reimbursement; DNA sequencing; Whole genome sequencing; Genome; Cancer genome sequencing","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":[0.02342045,0.00400111,0.005559918,0.001083818,0.0009270165,0.003207073,0.002266954,0.008639051,0.00737118],"category_scores_gemma":[0.04754525,0.001802423,0.006194299,0.00106523,0.005035801,0.006054063,0.002705395,0.00845636,0.001186776],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003681303,"about_ca_system_score_gemma":0.003391085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00205582,"about_ca_topic_score_gemma":0.001097393,"domain_scores_codex":[0.9604221,0.03113905,0.001592949,0.003282049,0.001690444,0.00187344],"domain_scores_gemma":[0.9540316,0.03178176,0.006449694,0.003119634,0.001642583,0.002974737],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","study_design_scores_codex":[0.9787905,0.006726191,0.001723529,0.0003168312,0.002790545,0.00002801907,0.00008611383,0.001014684,0.0002451843,0.0004039804,0.0003939727,0.007480558],"study_design_scores_gemma":[0.8556146,0.1318186,0.003172884,0.0001899959,0.003745304,0.00004560318,0.0001038596,0.002792208,0.0005288094,0.001245136,0.0006676627,0.00007521039],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9731991,0.004374389,0.004900603,0.002579688,0.002094962,0.009167979,0.0009000438,0.0001552185,0.002628118],"genre_scores_gemma":[0.9800286,0.0009396652,0.006105818,0.001981007,0.0008956925,0.007780814,0.0006753779,0.0000503179,0.00154266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02342045,"threshold_uncertainty_score":0.1238606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01766928791379545,"score_gpt":0.3183079447982986,"score_spread":0.3006386568845031,"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."}}