{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000102341,0.0001494153,0.0001341617,0.00004615043,0.000179663,0.00004848585,0.0002489685,0.0001145598,0.00001183309],"category_scores_gemma":[0.0001452379,0.0001449382,0.0001179865,0.00005881848,0.00006170173,0.000001707093,0.0001097668,0.00004256206,0.00003668661],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001946804,"about_ca_system_score_gemma":0.0001131258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002053987,"about_ca_topic_score_gemma":0.00003843899,"domain_scores_codex":[0.9987147,0.00003769471,0.0004298802,0.0004693833,0.0001021527,0.0002461828],"domain_scores_gemma":[0.9991759,0.00005850997,0.0001439835,0.0003803067,0.0001436844,0.00009761947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006416657,0.0002228591,0.06116296,0.00005474942,0.0003315676,0.00001089413,0.00191403,0.00242379,0.9010534,0.00008155271,0.02460535,0.007497224],"study_design_scores_gemma":[0.01277464,0.005329249,0.7685771,0.0001177831,0.0004743543,0.000001855179,0.005940576,0.0022749,0.1501075,0.01322668,0.03848534,0.002690056],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975364,0.0002365495,0.0001501127,0.00001980966,0.0001851362,0.0003663207,0.001178791,0.00003052373,0.0002964128],"genre_scores_gemma":[0.9917827,0.0002513408,0.001521747,0.00008809206,0.0003715174,0.00007030164,0.005479877,0.00003253584,0.0004018707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7509459,"threshold_uncertainty_score":0.5910407,"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."}}