{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004512174,0.0001817516,0.0003740141,0.0002555013,0.00003953041,0.00002731138,0.0002043452,0.0001186507,0.0001062426],"category_scores_gemma":[0.0002730245,0.0001566866,0.00007631585,0.0005543274,0.0000901611,0.0002011336,0.0001357767,0.0002140219,0.0001418976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002628059,"about_ca_system_score_gemma":0.0001569789,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003438134,"about_ca_topic_score_gemma":0.00001566169,"domain_scores_codex":[0.9975529,0.0001499928,0.0006766883,0.0004104455,0.0007896896,0.0004202321],"domain_scores_gemma":[0.9985561,0.00001345343,0.0001774463,0.0005477784,0.0004008397,0.0003043188],"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":[0.0004755036,0.0005129246,0.09077784,0.0000515324,0.00003311912,0.00002581943,0.000301037,0.00004560456,0.9045735,0.000008857169,0.0003554281,0.002838849],"study_design_scores_gemma":[0.004066068,0.0003323584,0.8341442,0.0001717624,0.00001889401,0.000004177866,0.00001312597,0.0005437788,0.1603465,0.0001605361,0.00005141102,0.000147151],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974179,0.0001768742,0.00009162393,0.0009763168,0.0001178853,0.001074791,0.00006205818,0.00003289365,0.00004963487],"genre_scores_gemma":[0.9981921,0.00007153736,0.0007131429,0.0001669691,0.00008251932,0.0001252562,0.000143335,0.0000387361,0.0004664565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7442269,"threshold_uncertainty_score":0.6389493,"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."}}