{"id":"W1899153802","doi":"10.1016/j.jneuroim.2015.11.002","title":"Exome and regulatory element sequencing of neuromyelitis optica patients","year":2015,"lang":"en","type":"article","venue":"Journal of Neuroimmunology","topic":"14-3-3 protein interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Genome Canada","funders":"Evald ja Hilda Nissin Säätiö; Academy of Finland; Canada Research Chairs; Mary och Georg C. Ehrnrooths Stiftelse; Ögonfonden; Helsingin ja Uudenmaan Sairaanhoitopiiri","keywords":"Neuromyelitis optica; Exome sequencing; Exome; Medicine; DNA sequencing; Computational biology; Genetics; Biology; Immunology; Gene; Mutation; Antibody","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002339767,0.0005534996,0.0003440121,0.001241047,0.0007536024,0.0005833482,0.0003227573,0.0007904574,0.00319587],"category_scores_gemma":[0.0008402177,0.0001729656,0.0003081617,0.0007376191,0.0002654504,0.0002969381,0.0004314195,0.0003292142,0.0005190181],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002607183,"about_ca_system_score_gemma":0.0002148199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001608364,"about_ca_topic_score_gemma":0.001851116,"domain_scores_codex":[0.9997153,0.00002872463,0.00004507177,0.00009833575,0.00005677667,0.00005592346],"domain_scores_gemma":[0.9997681,0.00008692597,0.00004501475,0.00002012996,0.00003676853,0.00004304182],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00364563,0.0003911637,0.558825,0.0002446531,0.0003224165,0.06320229,0.002401375,0.0008953426,0.308203,0.0008475655,0.003274478,0.05774714],"study_design_scores_gemma":[0.000108483,0.0004047081,0.8922604,0.00008546269,0.000291077,0.07409922,0.001301585,0.001205197,0.02202631,0.0008076531,0.007364342,0.0000456612],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973738,0.0001864057,0.0001940007,0.00007785441,0.000009010231,0.00001151335,0.001105709,0.000008463918,0.001033224],"genre_scores_gemma":[0.9967923,0.0001912304,0.000512026,0.0001186912,0.00001191529,0.00001920088,0.001480567,0.00001124991,0.0008629441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00319587,"threshold_uncertainty_score":0.01069129,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02174320382601745,"score_gpt":0.2490455572593741,"score_spread":0.2273023534333566,"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."}}