{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004550107,0.0003498706,0.000430451,0.0008236839,0.0003701293,0.00051256,0.000338005,0.0004845093,0.002096106],"category_scores_gemma":[0.00319787,0.0001889866,0.0002976328,0.0008914754,0.0006285237,0.0002041323,0.0003972684,0.0006380572,0.0002355613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001673823,"about_ca_system_score_gemma":0.0001517555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002243581,"about_ca_topic_score_gemma":0.001949227,"domain_scores_codex":[0.9992278,0.0002036528,0.000056791,0.0002960309,0.0001317776,0.0000840498],"domain_scores_gemma":[0.9983406,0.0006348431,0.0005761452,0.0002477785,0.00007969672,0.0001209055],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005440759,0.00004620679,0.9434478,0.00006513829,0.0003984661,0.001187829,0.0003362797,0.0004311161,0.03007969,0.001133648,0.0003315112,0.0219982],"study_design_scores_gemma":[0.00001896382,0.0001065101,0.9885499,0.00002942062,0.0002538972,0.00341002,0.0001362277,0.0009024109,0.002626055,0.002745275,0.001202238,0.00001901361],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958922,0.001295138,0.001522491,0.0001659188,0.00001476469,0.000006900049,0.0002671267,0.00002696323,0.0008085807],"genre_scores_gemma":[0.9990374,0.0002379565,0.0004493886,0.00002359468,0.00001938688,0.000003241196,0.0001062135,0.000007881519,0.0001149119],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002243581,"threshold_uncertainty_score":0.007012188,"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."}}