{"id":"W4328048527","doi":"10.1007/s00439-023-02543-3","title":"Great expectations: patients’ preferences for clinically significant results from genomic sequencing","year":2023,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Public Health Ontario; Ontario Institute for Cancer Research; Hospital for Sick Children; University of British Columbia; Sinai Health System; St. Michael's Hospital; Sunnybrook Health Science Centre; Princess Margaret Cancer Centre; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Health Sciences Centre; University Health Network; University of Toronto","funders":"National Cancer Institute; Canadian Institutes of Health Research; Hospital for Sick Children; Memorial Sloan-Kettering Cancer Center; University of Toronto; Institute for Clinical Evaluative Sciences; University of Ottawa; University of Alberta","keywords":"Biology; Human genetics; Genomic sequencing; Genetics; Computational biology; Molecular medicine; DNA sequencing; Genomic medicine; Metabolic disease; Evolutionary biology; Bioinformatics; Genome; Gene; Endocrinology","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":[0.006641535,0.0002113099,0.0002444844,0.0004105809,0.001284665,0.002009348,0.0005032027,0.002621952,0.01243162],"category_scores_gemma":[0.0502756,0.0001725722,0.0005095102,0.0002992743,0.00180505,0.001790599,0.00163323,0.00352219,0.001884187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001009764,"about_ca_system_score_gemma":0.00128843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006718363,"about_ca_topic_score_gemma":0.001374306,"domain_scores_codex":[0.9946426,0.003214564,0.0003620909,0.0002133677,0.0009898426,0.0005774496],"domain_scores_gemma":[0.9639875,0.02114376,0.003505627,0.0009901457,0.002289557,0.008083342],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"qualitative","study_design_scores_codex":[0.003148922,0.0008853098,0.4039212,0.0006711524,0.0007675627,0.01732205,0.0189452,0.003925443,0.006770492,0.02899802,0.2015742,0.3130705],"study_design_scores_gemma":[0.0007151132,0.002780102,0.3321949,0.001702767,0.0008221253,0.127171,0.07206778,0.009198423,0.007657302,0.1672766,0.2771924,0.00122148],"study_design_candidate":"qualitative","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6365124,0.005184283,0.008028456,0.2497886,0.001879593,0.0000758745,0.0008179393,0.0002121544,0.09750066],"genre_scores_gemma":[0.972881,0.0006792415,0.002129972,0.02210902,0.0004870116,0.00002708237,0.0001312487,0.00004647163,0.001509013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01243162,"threshold_uncertainty_score":0.04158789,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05815467315472077,"score_gpt":0.302856756400268,"score_spread":0.2447020832455472,"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."}}