{"id":"W2362445007","doi":"10.1016/j.ajhg.2016.04.011","title":"Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":164,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Cancer Institute; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Institute on Aging","keywords":"Human genetics; Exome sequencing; Multidisciplinary approach; Genomics; Precision medicine; Exome; Medicine; Biology; Genetics; Genome; Political science; 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":[0.004019049,0.000123706,0.000332278,0.00009774591,0.0001539857,0.00001596008,0.0006099871,0.00004136935,0.00002569257],"category_scores_gemma":[0.001589436,0.00006821297,0.0001455866,0.000116887,0.001657119,0.000009430334,0.0001407759,0.000211134,0.000003517977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004515614,"about_ca_system_score_gemma":0.0006979348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001361676,"about_ca_topic_score_gemma":0.000004113539,"domain_scores_codex":[0.9972227,0.001097012,0.0008554262,0.0001942083,0.0003858218,0.0002448421],"domain_scores_gemma":[0.9961852,0.0008287197,0.001230622,0.0004916716,0.001113022,0.000150703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003820469,0.00005093203,0.005788142,0.000009983723,0.000112141,0.00002231395,0.0001755795,0.0001147836,0.9800304,0.0000337401,0.001037042,0.01224291],"study_design_scores_gemma":[0.008894713,0.06960337,0.09745897,0.003353418,0.001433154,0.00108065,0.04005592,0.0001960364,0.7339725,0.002231241,0.04006921,0.001650809],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921893,0.005633595,0.000578649,0.001283299,0.0001107403,0.0001013201,0.000004648847,0.000001939497,0.00009648505],"genre_scores_gemma":[0.9930214,0.003937831,0.001530505,0.0005962649,0.000857563,0.00000246088,0.000001130127,0.00002408146,0.00002873695],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2460579,"threshold_uncertainty_score":0.6105725,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1827664320955388,"score_gpt":0.4385777437229165,"score_spread":0.2558113116273777,"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."}}