{"id":"W2128297440","doi":"10.1001/archneurol.2010.351","title":"Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral Sclerosis","year":2011,"lang":"en","type":"article","venue":"Archives of Neurology","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Canadian Institutes of Health Research","keywords":"Nonsynonymous substitution; Amyotrophic lateral sclerosis; Missense mutation; Genetics; Gene; Biology; Candidate gene; Mutation; Synonymous substitution; Exome sequencing; Disease; Coding region; Medicine; Genome; Pathology; Codon usage bias","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":[0.00007369406,0.0001306271,0.0003953209,0.0002441119,0.00002398655,0.000001985273,0.0001306397,0.00006000957,0.00003833038],"category_scores_gemma":[0.00003416232,0.00009697827,0.00003730524,0.0001464636,0.0006643906,0.00006248422,0.0001276956,0.0002518102,0.00000118029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006456833,"about_ca_system_score_gemma":0.00005437521,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002035359,"about_ca_topic_score_gemma":0.0001513929,"domain_scores_codex":[0.9987245,0.000137663,0.0003206531,0.0002921665,0.0002020544,0.0003229549],"domain_scores_gemma":[0.9994013,0.00007649884,0.000111204,0.0002603816,0.00003861183,0.0001119679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004960694,0.0001464997,0.9440207,0.00007226897,0.00003146913,0.00004630543,0.0008190415,0.000005521008,0.04543275,0.00005164199,0.00000195761,0.004411148],"study_design_scores_gemma":[0.00293406,0.00356054,0.9911864,0.00008242622,0.00001954424,0.00001023394,0.000005490907,0.0001430576,0.001715085,0.0002662673,0.000005146383,0.00007170931],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989901,0.00006314732,0.00000601296,0.0001829268,0.00002673145,0.0002969811,0.00001281608,0.000009567425,0.0004117595],"genre_scores_gemma":[0.9988958,0.0002282427,0.000686418,0.0001190837,0.00001778081,0.000007990267,0.000009503695,0.00002078371,0.00001434986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04716574,"threshold_uncertainty_score":0.3954659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02984093583246376,"score_gpt":0.2302165572117858,"score_spread":0.200375621379322,"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."}}