{"id":"W2790053519","doi":"10.1016/j.neuron.2018.02.027","title":"Genome-wide Analyses Identify KIF5A as a Novel ALS Gene","year":2018,"lang":"de","type":"article","venue":"Neuron","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":718,"is_retracted":false,"has_abstract":false,"ca_institutions":"Sunnybrook Health Science Centre; Montreal Neurological Institute and Hospital; University of Toronto; McGill University; Health Sciences Centre; Occupational Cancer Research Centre","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; Medical Research Council; National Institute on Minority Health and Health Disparities; Regione Piemonte; University College London Hospitals NHS Foundation Trust; Neuroförbundet; UK Dementia Research Institute; Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica; Knut och Alice Wallenbergs Stiftelse; Fonds Wetenschappelijk Onderzoek; Västerbotten Läns Landsting; National Institutes of Health; Rosetrees Trust; Massachusetts Institute of Technology; European Commission; National Heart, Lung, and Blood Institute; Academy of Medical Sciences; National Institute on Aging; Health Research Board; National Institute for Health and Care Research; Consortium canadien en neurodégénérescence associée au vieillissement; Ulla-Carin Lindquists stiftelse för ALS-forskning; Motor Neurone Disease Association; KU Leuven; Rare Diseases Clinical Research Network; New York Genome Center; Science Foundation Ireland; Vlaamse regering; Tow Foundation; Target ALS; Ministero della Salute; Alzheimer's Society; ALS Association; Wellcome Trust; Torsten Söderbergs Stiftelse; U.S. Department of Veterans Affairs; Università degli Studi di Torino; Cytokinetics; ALS Therapy Alliance; Muscular Dystrophy Association; Motor Neurone Disease Research Institute of Australia","keywords":"Gene; Genome; Biology; Computational biology; Genetics","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":[0.0002804213,0.0006077068,0.0005312865,0.001289862,0.0006577004,0.0008960722,0.000581564,0.0008777676,0.003825174],"category_scores_gemma":[0.0005198893,0.0001724525,0.0008248562,0.001096045,0.0003561414,0.0002383769,0.0004702673,0.0005889149,0.0006440213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005706034,"about_ca_system_score_gemma":0.0003754261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004373732,"about_ca_topic_score_gemma":0.008722942,"domain_scores_codex":[0.999815,0.00001389281,0.00001858599,0.00006965994,0.00005082156,0.00003207811],"domain_scores_gemma":[0.999745,0.00006290002,0.0001011734,0.00001358303,0.00002620246,0.00005113262],"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":[0.00370289,0.0002366129,0.3009273,0.00113287,0.003547082,0.01547237,0.0005100533,0.00203288,0.5738027,0.002481205,0.009384592,0.08676942],"study_design_scores_gemma":[0.0001760853,0.0003150513,0.8937989,0.000225262,0.002928241,0.01358012,0.0007725059,0.003972558,0.04719855,0.001973759,0.03498146,0.00007743421],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9711901,0.01334797,0.004579533,0.001059458,0.0001969853,0.00003864944,0.006270949,0.000218425,0.00309792],"genre_scores_gemma":[0.9932154,0.001494652,0.001337487,0.000242917,0.00002761325,0.00001161957,0.002442291,0.00001933134,0.001208641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004373732,"threshold_uncertainty_score":0.01279652,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1176641484595401,"score_gpt":0.4071722885605371,"score_spread":0.289508140100997,"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."}}