{"id":"W2044294201","doi":"10.1016/j.gene.2015.04.035","title":"Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients","year":2015,"lang":"en","type":"article","venue":"Gene","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":78,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Fondo Nacional de Desarrollo Científico y Tecnológico; Colorado Power Electronics Center, University of Colorado Boulder; National Heart, Lung, and Blood Institute; National Institutes of Health; Fundación Copec-UC; National Institute of Neurological Disorders and Stroke; Comisión Nacional de Investigación Científica y Tecnológica; AFM-Téléthon; Fondo de Fomento al Desarrollo Científico y Tecnológico; Canadian Institutes of Health Research; Fundación Alfonso Martín Escudero; ALS Therapy Alliance; Muscular Dystrophy Association; Michael J. Fox Foundation for Parkinson's Research","keywords":"Biology; Amyotrophic lateral sclerosis; Missense mutation; Protein disulfide-isomerase; Exome sequencing; Genetics; Single-nucleotide polymorphism; Gene; Nonsynonymous substitution; Exome; Endoplasmic reticulum; Mutation; Genotype; Disease; 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":[0.0003675897,0.0006973436,0.0004884492,0.00172616,0.0009481957,0.0007469965,0.0005539881,0.001154982,0.003059234],"category_scores_gemma":[0.002261483,0.000266657,0.0004606436,0.0009449837,0.0004841054,0.000333233,0.0004138338,0.0004665985,0.0004312544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002059933,"about_ca_system_score_gemma":0.0002113527,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001192728,"about_ca_topic_score_gemma":0.001012092,"domain_scores_codex":[0.9994963,0.00009546031,0.000100315,0.0001432969,0.00009324151,0.00007129282],"domain_scores_gemma":[0.9990968,0.0004089648,0.0002267453,0.00005461232,0.00007512604,0.0001377346],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002356708,0.000201782,0.861777,0.00006847044,0.0002682795,0.05528568,0.0009779549,0.0003415552,0.06752301,0.0006914785,0.0006853711,0.009822897],"study_design_scores_gemma":[0.0001558135,0.0006483959,0.8634148,0.00004942471,0.0003353587,0.121958,0.001164069,0.001326384,0.008001854,0.0009918975,0.00190227,0.00005168149],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990112,0.0001682149,0.0001526349,0.00006466421,0.0000132226,0.000005542499,0.0001551146,0.000009120764,0.0004203066],"genre_scores_gemma":[0.9994423,0.00005476605,0.0001468922,0.00003557427,0.00001636987,0.000004056234,0.0001272557,0.000004319313,0.0001685095],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003059234,"threshold_uncertainty_score":0.01023418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04514712867506138,"score_gpt":0.2806519074516507,"score_spread":0.2355047787765893,"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."}}