{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.245033,0.0005324993,0.0006327225,0.001172945,0.008302419,0.007189205,0.003539633,0.003900839,0.002912945],"category_scores_gemma":[0.1827508,0.0007954524,0.0007639985,0.001853925,0.01133638,0.007336858,0.02080062,0.006336723,0.000460873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005781036,"about_ca_system_score_gemma":0.02516145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003509552,"about_ca_topic_score_gemma":0.004738113,"domain_scores_codex":[0.7038799,0.264826,0.005768952,0.005445623,0.01234169,0.00773792],"domain_scores_gemma":[0.7341535,0.1796429,0.01462108,0.01294684,0.01536105,0.0432747],"domain_codex":null,"domain_gemma":"methods","domain_candidate":"methods","domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.0006618566,0.001845703,0.08099757,0.0009904165,0.0001638457,0.009857741,0.6701747,0.001162158,0.002364847,0.01814494,0.02249723,0.1911391],"study_design_scores_gemma":[0.0002984695,0.003035105,0.02666166,0.002077266,0.0001346043,0.02892158,0.6927967,0.002988523,0.003084748,0.02351481,0.2160648,0.0004216867],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8503303,0.006528533,0.02076694,0.1011516,0.0007060798,0.0009721273,0.0001721003,0.0001975198,0.01917471],"genre_scores_gemma":[0.956032,0.004439457,0.02201906,0.01343886,0.0003299282,0.0008500893,0.000157035,0.0001312613,0.002602339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.754967,"threshold_uncertainty_score":0.9310087,"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."}}