{"id":"W2790965658","doi":"10.1016/j.cell.2018.09.049","title":"Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk","year":2018,"lang":"en","type":"article","venue":"Cell","topic":"Viral Infections and Immunology Research","field":"Medicine","cited_by":171,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"UCB Pharma; National Institute of Neurological Disorders and Stroke; Sanofi Genzyme; EMD Serono; MedDay Pharmaceuticals; Grifols; Neuroförbundet; Forskningsrådet om Hälsa, Arbetsliv och Välfärd; Knut och Alice Wallenbergs Stiftelse; Fonds Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; King's College London; Fondazione Cariplo; Multiple Sclerosis Society; National Institutes of Health; Mylan; National Institute for Health and Care Research; CSL Behring; NHS Blood and Transplant; Genentech; Norges Forskningsråd; Alberta Foundation for the Arts; Bristol-Myers Squibb; National Health and Medical Research Council; AstraZeneca; NIHR Oxford Biomedical Research Centre; Biogen; University of Miami; Wellcome Trust; Alexion Pharmaceuticals; Bayer HealthCare; Medicinska Forskningsrådet; Hjärnfonden; European Commission; Bundesministerium für Bildung und Frauen; Compass Therapeutics; Sanofi; Medical Research Council; Verily Life Sciences; Teva Pharmaceutical Industries; Celgene","keywords":"Biology; Heritability; Linkage disequilibrium; Genetics; Epistasis; Missing heritability problem; Genome-wide association study; Gene; Genetic variation; Genetic association; Computational biology; Evolutionary biology; Haplotype; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001824369,0.00005678332,0.0001073253,0.0000789085,0.0001795412,0.00002317513,0.00003167369,0.00006581104,0.0001257091],"category_scores_gemma":[0.0003237098,0.00004839606,0.0000211046,0.0001740804,0.00007607617,0.00005506763,0.00003858051,0.0001204676,0.0002063371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003751091,"about_ca_system_score_gemma":0.0000237139,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002232533,"about_ca_topic_score_gemma":0.00002422136,"domain_scores_codex":[0.9995053,0.00003558277,0.000101132,0.0001427434,0.0000518587,0.0001634193],"domain_scores_gemma":[0.9995593,0.00006842366,0.0000247942,0.0001470758,0.0001418892,0.00005850508],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007887935,0.00009761908,0.1373274,0.00002224038,0.00003443154,0.000001519089,0.0003623316,5.182085e-7,0.8554261,0.0001012962,0.001438631,0.005109046],"study_design_scores_gemma":[0.001698559,0.0006971868,0.7345966,0.00005670167,0.00003922792,0.00000254156,0.00006295563,0.0005408913,0.2598671,0.0001879725,0.00217675,0.00007354112],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912846,0.0002483905,0.005039426,0.0004999149,0.0001532984,0.0002551117,0.000007851089,0.00003417995,0.002477206],"genre_scores_gemma":[0.9981747,0.0001958018,0.0006589605,0.0001762563,0.00009412072,0.00001638293,0.000006360836,0.000007573419,0.0006698035],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5972692,"threshold_uncertainty_score":0.2652115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03106826405936262,"score_gpt":0.2719149939162134,"score_spread":0.2408467298568508,"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."}}