{"id":"W2061194981","doi":"10.1126/science.aaa3650","title":"Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways","year":2015,"lang":"en","type":"article","venue":"Science","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":981,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Center for Advancing Translational Sciences; National Institute on Aging; Motor Neurone Disease Association; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Medical Research Council; National Institute for Health and Care Research; Wellcome Trust","keywords":"Optineurin; Amyotrophic lateral sclerosis; Exome sequencing; Gene; Sequestosome 1; TANK-binding kinase 1; Exome; Biology; Genetics; RefSeq; Innate immune system; Autophagy; Disease; Mutation; Bioinformatics; Medicine; Genome; Pathology; Immune system","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004975108,0.0003910696,0.0003631598,0.0009278181,0.000332748,0.0004268238,0.0001726526,0.0005392591,0.001312704],"category_scores_gemma":[0.00130837,0.0001348443,0.000284528,0.0007109986,0.0001885219,0.0002465589,0.0004644332,0.000268137,0.0002449032],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001607256,"about_ca_system_score_gemma":0.0001325061,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006403316,"about_ca_topic_score_gemma":0.001047871,"domain_scores_codex":[0.9997752,0.00005329195,0.000026717,0.00008065983,0.00004422805,0.00001987845],"domain_scores_gemma":[0.9996013,0.0001691383,0.000103971,0.00003735685,0.00004390804,0.0000443358],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002642234,0.0001523037,0.7414678,0.0003550221,0.0007156008,0.008804264,0.0007885828,0.00183614,0.1900375,0.0008425306,0.001933978,0.05042402],"study_design_scores_gemma":[0.00005928434,0.0002069184,0.9656484,0.0001038807,0.0003296282,0.009658218,0.0002916381,0.001713334,0.01504731,0.002070065,0.004847911,0.00002341563],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953504,0.001284221,0.001268911,0.0001497539,0.000008684998,0.00001023176,0.001264689,0.0000202562,0.0006428628],"genre_scores_gemma":[0.9941128,0.0008501713,0.00196764,0.0001517652,0.00001211286,0.00001960549,0.002068468,0.00001223488,0.0008052696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001312704,"threshold_uncertainty_score":0.004391432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1219475378584094,"score_gpt":0.3088997210720526,"score_spread":0.1869521832136432,"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."}}