{"id":"W2597949600","doi":"10.1007/s00439-017-1784-9","title":"Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis","year":2017,"lang":"en","type":"article","venue":"Human Genetics","topic":"Cytokine Signaling Pathways and Interactions","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Institute of Genetics; Canadian Institutes of Health Research; Canada Excellence Research Chairs, Government of Canada; Vancouver Coastal Health Research Institute; Canada Research Chairs; Vancouver Foundation","keywords":"Cerebrotendinous Xanthomatosis; Multiple sclerosis; Etiology; Biology; Genetics; Human genetics; Gene; Mutation; Disease; Immunology; Internal medicine; Medicine; Endocrinology; Cholesterol","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001146213,0.0002965953,0.0004838443,0.0001273904,0.001052153,0.0001383279,0.0002780413,0.0002093879,0.00007610331],"category_scores_gemma":[0.0001284397,0.000298188,0.0001528929,0.00004941322,0.0004728929,0.0000642219,0.0002447701,0.0003068806,0.00003541614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005987577,"about_ca_system_score_gemma":0.00003772659,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005547676,"about_ca_topic_score_gemma":0.001429864,"domain_scores_codex":[0.9983202,0.00006397921,0.0004580661,0.0005052477,0.0002213784,0.0004311244],"domain_scores_gemma":[0.9983423,0.0001327305,0.0002471734,0.0009306703,0.0001028395,0.0002443246],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004002485,0.0001481548,0.5140463,0.00002638327,0.0000685253,0.000002757053,0.0001940687,0.00003115855,0.4719674,0.000007045452,0.0004390178,0.01302917],"study_design_scores_gemma":[0.002668187,0.0008729909,0.9290997,0.0001340011,0.0002188729,0.00001228057,0.00006892869,0.0006186609,0.06121255,0.0001400462,0.004648438,0.0003053478],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970976,0.0005422783,0.0004301152,0.0003358274,0.0003980297,0.0004386464,0.0001104043,0.00008100483,0.0005661651],"genre_scores_gemma":[0.9957163,0.0005984264,0.002326333,0.0001947362,0.00075506,0.00003059124,0.0001375933,0.00006876397,0.0001722349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4150535,"threshold_uncertainty_score":0.999947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1394836226253388,"score_gpt":0.2986301499942385,"score_spread":0.1591465273688996,"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."}}