{"id":"W3122011468","doi":"","title":"The Clinical Application of Genome-Wide Sequencing for Monogenic Diseases in Canada: Position Statement of the Canadian College of Medical Geneticists","year":2015,"lang":"en","type":"article","venue":"Scholarship@Western (Western University)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Université de Montréal; University of Alberta; Memorial University of Newfoundland; Dalhousie University; University of Toronto; McGill University; Children's Hospital of Eastern Ontario; University of Calgary; University of British Columbia Hospital; University of British Columbia","funders":"","keywords":"Position statement; Statement (logic); Position (finance); Genealogy; Genetics; Family medicine; Political science; Library science; Medicine; Biology; Law; Business; Computer science; History","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.06306428,0.001225503,0.001378413,0.003273211,0.01135276,0.009716865,0.005976176,0.0164202,0.003623174],"category_scores_gemma":[0.1447613,0.001293277,0.001434931,0.003954575,0.008443778,0.002654253,0.005008844,0.01538943,0.002071794],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0562179,"about_ca_system_score_gemma":0.5155642,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9115022,"about_ca_topic_score_gemma":0.9532425,"domain_scores_codex":[0.9374741,0.0109097,0.007142353,0.003548475,0.03390737,0.007018149],"domain_scores_gemma":[0.6924847,0.0311398,0.009924087,0.004259706,0.2263506,0.03584106],"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":[0.0000569096,0.00004995361,0.005894971,0.001135089,0.00005465974,0.0003543517,0.001415163,0.0004381585,0.0006601166,0.004835065,0.9279405,0.05716504],"study_design_scores_gemma":[0.0001189591,0.0001000818,0.01655582,0.007474933,0.0001953289,0.0005009992,0.002233868,0.0007897584,0.0009365796,0.003928207,0.9668783,0.0002872263],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.00248485,0.02282147,0.002960471,0.918791,0.02188624,0.001081427,0.002022996,0.0001359547,0.02781557],"genre_scores_gemma":[0.0837539,0.09360345,0.05718233,0.6853086,0.01974933,0.002348975,0.005901101,0.000515136,0.05163718],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.9437821,"threshold_uncertainty_score":0.4078913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06475204367053823,"score_gpt":0.3175050800588026,"score_spread":0.2527530363882644,"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."}}