{"id":"W2888017518","doi":"10.1002/mgg3.453","title":"Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Cancer Institute; National Human Genome Research Institute","keywords":"Context (archaeology); Exploratory research; Carrier testing; Genomics; Translational research; Medicine; Medical education; Psychology; Genetics; Biology; Genome; Gene; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.005848557,0.0002356012,0.0002791292,0.0002126619,0.0003634896,0.00005369139,0.0005794944,0.000198577,0.000008842445],"category_scores_gemma":[0.002166936,0.0001850449,0.00005512629,0.0004948038,0.002011459,0.000004397018,0.0004790266,0.0004448534,0.00000929237],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006918646,"about_ca_system_score_gemma":0.0007241118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001165589,"about_ca_topic_score_gemma":0.0003699755,"domain_scores_codex":[0.9959857,0.000932473,0.000868938,0.0009698099,0.0005410413,0.0007020548],"domain_scores_gemma":[0.9978853,0.0003222663,0.0001033872,0.0008775275,0.000431187,0.0003803501],"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":[0.0005199909,0.00007202723,0.0196018,0.00003072206,0.00006677041,0.00009400196,0.01114799,0.0008204145,0.9593304,0.0003244288,0.001177506,0.006813894],"study_design_scores_gemma":[0.01310246,0.01118921,0.3468138,0.0007304481,0.0002350069,0.0004664784,0.06066831,0.01133929,0.2544735,0.01191135,0.2858093,0.003260872],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910024,0.004838884,0.0005514229,0.001788934,0.0001868153,0.0007853891,0.00005214439,0.000007322089,0.0007867109],"genre_scores_gemma":[0.9951439,0.0003476209,0.002671364,0.0005458689,0.001007463,0.00009494366,0.00005376666,0.00005199651,0.00008308617],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7048569,"threshold_uncertainty_score":0.7545914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.4388316502366411,"score_gpt":0.4223061259412894,"score_spread":0.01652552429535165,"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."}}