{"id":"W4308189234","doi":"10.1007/s00439-022-02480-7","title":"Genome screening, reporting, and genetic counseling for healthy populations","year":2022,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Brampton Civic Hospital; Women's College Hospital; Sinai Health System; Baycrest Hospital; William Osler Health System; Ontario Institute for Cancer Research; Hospital for Sick Children; York Central Hospital; University Health Network; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Ontario Institute for Cancer Research; McMaster University","keywords":"Genetic counseling; Biology; Pharmacogenomics; Disease; Human genetics; Genome; Genetics; Gene; Medicine; Internal medicine","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":[0.02429365,0.0008429628,0.0005196371,0.004621562,0.001323766,0.001605389,0.001621073,0.0009812883,0.01311589],"category_scores_gemma":[0.04626058,0.0004535879,0.0006035949,0.002363564,0.0006089569,0.001002964,0.00314086,0.0008543233,0.005286101],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001397933,"about_ca_system_score_gemma":0.007207044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01036494,"about_ca_topic_score_gemma":0.00982979,"domain_scores_codex":[0.9823732,0.01197044,0.00193825,0.001156652,0.00185187,0.0007096216],"domain_scores_gemma":[0.9669372,0.01180299,0.004038847,0.008407647,0.006385989,0.002427279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0006142638,0.0008151297,0.1063297,0.0005105821,0.00008029244,0.001247118,0.004215817,0.001685202,0.005191741,0.005704097,0.1912891,0.682317],"study_design_scores_gemma":[0.0005697886,0.001349803,0.321185,0.001770296,0.0002041959,0.003577163,0.005244015,0.01617079,0.02534796,0.02423438,0.5999529,0.0003937361],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"review","genre_scores_codex":[0.3062843,0.003457597,0.3684591,0.03547685,0.001593344,0.04252738,0.07361522,0.03796932,0.1306169],"genre_scores_gemma":[0.3579557,0.002204306,0.5762283,0.005430353,0.0007282314,0.01538305,0.0253693,0.001166185,0.01553458],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.02429365,"threshold_uncertainty_score":0.1284786,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05074471495872933,"score_gpt":0.3206952385438797,"score_spread":0.2699505235851503,"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."}}