{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003571949,0.001004743,0.0005177882,0.0007830414,0.000800872,0.0007073234,0.0006771846,0.001619182,0.01071802],"category_scores_gemma":[0.001721135,0.0003270869,0.0007015293,0.0006829493,0.0004401082,0.0004271587,0.0006908038,0.0008829293,0.001098312],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003387617,"about_ca_system_score_gemma":0.0001878875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00178285,"about_ca_topic_score_gemma":0.002019152,"domain_scores_codex":[0.9995967,0.00009450478,0.00007122202,0.0001215736,0.0000589785,0.00005698609],"domain_scores_gemma":[0.9989896,0.0003975614,0.0002982619,0.0000844637,0.00006898415,0.0001610112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01948169,0.0007716409,0.4571846,0.0005418991,0.002872633,0.03855727,0.002475471,0.003497148,0.4345007,0.004619084,0.004643411,0.03085447],"study_design_scores_gemma":[0.0008894618,0.0009335234,0.8909354,0.0003436449,0.001935042,0.04991216,0.001026778,0.00420936,0.03161608,0.005832669,0.01214997,0.0002157741],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953962,0.0005125772,0.0005486595,0.0003265341,0.00008758056,0.00000936745,0.0005948797,0.00003158958,0.002492623],"genre_scores_gemma":[0.9978084,0.00009557341,0.0003416019,0.00008099106,0.00003831939,0.000005674676,0.0003080165,0.00002384403,0.001297604],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01071802,"threshold_uncertainty_score":0.03585535,"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."}}