{"id":"W2922939447","doi":"10.1016/j.cell.2019.02.040","title":"A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers","year":2019,"lang":"en","type":"article","venue":"Cell","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":187,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Dental and Craniofacial Research; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; Angela Wright Bennett Foundation; National Health and Medical Research Council; European Commission; McCusker Charitable Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Genetics; Horizon; Computational biology; Evolutionary biology; Rare events","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":[0.00004759019,0.00009385925,0.00008752031,0.000007797864,0.00007907682,0.00005077944,0.0001810807,0.00004546941,0.00001263948],"category_scores_gemma":[0.0000211835,0.00005121121,0.000110724,0.00001815314,0.00008571331,0.00000147133,0.00008000448,0.00002744197,0.000007482995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003499566,"about_ca_system_score_gemma":0.00002927812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008591921,"about_ca_topic_score_gemma":0.000002888367,"domain_scores_codex":[0.9994934,0.00003227027,0.00007923386,0.0002043442,0.00004378378,0.0001470315],"domain_scores_gemma":[0.9995477,0.00003281802,0.00003812581,0.0002997578,0.00002491121,0.0000567053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003716675,0.0007009062,0.09055427,0.0008285745,0.001062984,0.00002017702,0.001471261,0.0006523858,0.132817,0.0006671445,0.7078956,0.059613],"study_design_scores_gemma":[0.005095151,0.0005295759,0.01618356,0.00001453743,0.0004030008,0.000007534304,0.001397616,0.0007553193,0.01820717,0.00151494,0.955448,0.0004435505],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9679945,0.03005848,0.0001855773,0.0005241147,0.0002465661,0.0006386343,0.00008311227,0.000003865943,0.0002652297],"genre_scores_gemma":[0.994992,0.002958783,0.0001383395,0.000710329,0.0001592657,0.000170975,0.00007903458,0.00001661132,0.000774732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2475524,"threshold_uncertainty_score":0.2088332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005353733924631183,"score_gpt":0.1980541156776894,"score_spread":0.1927003817530582,"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."}}