{"id":"W4282914710","doi":"10.9778/cmajo.20210272","title":"Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario","year":2022,"lang":"en","type":"article","venue":"CMAJ Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Chiropractic Association; Institute for Clinical Evaluative Sciences; SickKids Foundation; Hospital for Sick Children; Children's Hospital of Eastern Ontario","funders":"Genome Canada; Pharmaceutical Research and Manufacturers of America Foundation","keywords":"Exome sequencing; Exome; DNA sequencing; Whole genome sequencing; Genome; Personal genomics; Medicine; Genetics; Biology; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008067022,0.0001763228,0.0002004983,0.00006705178,0.0004331886,0.0000982452,0.0009496723,0.0000325191,0.0000347665],"category_scores_gemma":[0.0005709516,0.0001434216,0.00009223901,0.0001277724,0.00005215895,0.000009728938,0.001653457,0.000107907,0.000001313433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005612384,"about_ca_system_score_gemma":0.002481669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00442178,"about_ca_topic_score_gemma":0.005605757,"domain_scores_codex":[0.9986067,0.00008474909,0.0003042711,0.0004665471,0.0002581344,0.000279544],"domain_scores_gemma":[0.9988046,0.00005499816,0.0001915718,0.0006290026,0.000255546,0.00006432332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.005846065,0.0007372227,0.06456009,0.0007797537,0.0008062727,0.00004107305,0.005108685,0.1209824,0.7890793,0.0003547845,0.003179949,0.008524453],"study_design_scores_gemma":[0.02753135,0.01493764,0.2307323,0.0004984049,0.002372225,0.00008235589,0.04573186,0.02223798,0.1327523,0.007825299,0.5104706,0.00482773],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7911326,0.0003220055,0.0008088255,0.0002647352,0.0000908783,0.2066438,0.0003301027,0.00002729971,0.0003797431],"genre_scores_gemma":[0.6888384,0.000002828464,0.0005202392,0.0001434841,0.00003665436,0.3101591,0.0001428788,0.00002239297,0.0001340488],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.656327,"threshold_uncertainty_score":0.6684439,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1043520808771744,"score_gpt":0.3440919436496712,"score_spread":0.2397398627724968,"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."}}