{"id":"W2498993352","doi":"10.1038/ng.3626","title":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosis","year":2016,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":294,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; National Health and Medical Research Council; Medical Research Council; National Institutes of Health; Deutsche Gesellschaft für Muskelkranke; National Human Genome Research Institute; Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica; Fondation Charcot; University of Toronto; Ministero della Salute; ZonMw; Case Western Reserve University; Belgian Federal Science Policy Office; Deutsche Forschungsgemeinschaft; Bundesministerium für Bildung und Forschung; National Institute on Aging; National Institute for Health and Care Research; Vlaamse regering; Istituto Auxologico Italiano; National Alzheimer's Coordinating Center; Vanderbilt University; EU Joint Programme – Neurodegenerative Disease Research; University of Pennsylvania; Motor Neurone Disease Association; South London and Maudsley NHS Foundation Trust; Massachusetts Institute of Technology; Wellcome Trust; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; German Network for Motor Neuron Diseases; Muscular Dystrophy Association; King's College London; Fundación Española para el Fomento de la Investigación de la Esclerosis Lateral Amiotrófica; ALS Therapy Alliance; E-Rare; Howard Hughes Medical Institute; University of Miami; Broad Institute","keywords":"Amyotrophic lateral sclerosis; Biology; Loss function; Genetics; Candidate gene; Gene; Genetic association; Disease; Computational biology; Genotype; Single-nucleotide polymorphism; Phenotype; Pathology; Medicine","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":["insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.0003221588,0.000287256,0.0004084579,0.0001550577,0.00009989816,0.000050461,0.0003377642,0.0006296285,0.001606307],"category_scores_gemma":[0.0003426179,0.0001760758,0.000145748,0.0003978083,0.0001536755,0.00007091335,0.0002658822,0.0006474244,0.0007882501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002685412,"about_ca_system_score_gemma":0.0001823996,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000256831,"about_ca_topic_score_gemma":0.0000325209,"domain_scores_codex":[0.997197,0.0001063775,0.0003684923,0.0007072589,0.0008470229,0.0007738357],"domain_scores_gemma":[0.997749,0.00007486671,0.00005404381,0.0009841075,0.0004790454,0.0006589749],"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":[0.000589616,0.0002023553,0.1707807,0.00005234774,0.0001045878,0.00005259781,0.0001265782,0.000005120538,0.7861992,0.0001397241,0.009878641,0.0318685],"study_design_scores_gemma":[0.001866155,0.0005995135,0.9722447,0.0002023568,0.00004448994,0.0000215801,0.000004146088,0.0000404344,0.01422459,0.0003330247,0.01016105,0.0002579787],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846101,0.0003306039,0.0002933743,0.01250826,0.0004490348,0.0007367457,0.00005301941,0.0001099647,0.0009088339],"genre_scores_gemma":[0.9896761,0.0003138047,0.003258222,0.002977536,0.0006770724,0.00002767167,0.00001090507,0.00006195986,0.002996794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.801464,"threshold_uncertainty_score":0.9999897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0337138164778189,"score_gpt":0.3089623490005509,"score_spread":0.275248532522732,"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."}}