{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001665809,0.0001243806,0.0001248417,0.00003588245,0.0007508076,0.00003257705,0.0001307059,0.00004443057,0.00003727732],"category_scores_gemma":[0.00003123291,0.0001331091,0.00008219272,0.00004298933,0.0000327589,8.683427e-7,0.000171757,0.00006028378,3.746507e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001338238,"about_ca_system_score_gemma":0.00005407289,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001345332,"about_ca_topic_score_gemma":0.00005005016,"domain_scores_codex":[0.9988076,0.00003261565,0.0004508226,0.0003542791,0.0001133104,0.0002413384],"domain_scores_gemma":[0.9992175,0.000005438912,0.0003538697,0.0002467678,0.00006857667,0.0001078378],"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":[0.0001882884,0.0002744065,0.07686496,0.0001252226,0.0001523265,0.00004324142,0.0004435929,0.0236014,0.8865342,0.0003611668,0.00388658,0.00752462],"study_design_scores_gemma":[0.001913538,0.002587678,0.4436122,0.000008637219,0.0001955346,0.000443339,0.0007602195,0.0025516,0.001991435,0.002011599,0.5428539,0.001070314],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989176,0.006824685,0.003220937,0.00007029938,0.0001138926,0.0003803801,0.0001553878,0.00001315536,0.00004530814],"genre_scores_gemma":[0.9904484,0.0001733047,0.007261903,0.0004549024,0.0003165094,0.0001253044,0.0008816874,0.00002793391,0.000310114],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8845428,"threshold_uncertainty_score":0.577468,"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."}}