{"id":"W4308704291","doi":"10.1111/cge.14262/v1/review1","title":"Review for \"Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data\"","year":2022,"lang":"en","type":"peer-review","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Bridging (networking); Exome sequencing; Medical diagnosis; Exome; Computational biology; Data science; Medicine; Computer science; Genetics; Biology; Pathology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01727838,0.001076299,0.002002051,0.006961076,0.00567278,0.0072485,0.004530791,0.00499348,0.04972168],"category_scores_gemma":[0.08392631,0.0008412023,0.001716149,0.006102246,0.004402754,0.003260665,0.00330189,0.004105823,0.01635599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03537798,"about_ca_system_score_gemma":0.3148198,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8028032,"about_ca_topic_score_gemma":0.9211666,"domain_scores_codex":[0.9858224,0.00190366,0.001318657,0.0007027353,0.008738083,0.001514471],"domain_scores_gemma":[0.7587397,0.01201595,0.00416241,0.003001808,0.21105,0.01103001],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001338982,0.000004543535,0.0001125542,0.0007110088,0.00001417799,0.00002805408,0.000052064,0.00001711368,0.00004092166,0.0004592836,0.9798584,0.01868842],"study_design_scores_gemma":[0.00003864196,0.000007809162,0.002046229,0.00344963,0.00006955658,0.00008913824,0.0001339831,0.00003424444,0.00008093112,0.0004470204,0.9935721,0.00003070364],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.001139434,0.1616,0.003024095,0.5048826,0.2164201,0.002097158,0.01477444,0.001021602,0.09504054],"genre_scores_gemma":[0.01991907,0.3099935,0.01578709,0.2249033,0.05634428,0.001971981,0.02087718,0.001210886,0.3489928],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.1971968,"threshold_uncertainty_score":0.3967163,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2965698558257626,"score_gpt":0.4731712004432083,"score_spread":0.1766013446174457,"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."}}