{"id":"W2346776605","doi":"10.1136/jnnp-2016-313592","title":"Genetic and epigenetic study of ALS-discordant identical twins with double mutations in<i>SOD1</i>and<i>ARHGEF28</i>","year":2016,"lang":"en","type":"letter","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Sunnybrook Health Science Centre; Centre for Addiction and Mental Health; Occupational Cancer Research Centre; University of Toronto","funders":"","keywords":"Genetics; Epigenetics; Biology; Mutation; Evolutionary biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0007075348,0.0006749842,0.0007640458,0.001748526,0.001571227,0.0005460188,0.0006934336,0.001045439,0.001510877],"category_scores_gemma":[0.003193149,0.0005556002,0.0005188227,0.00072245,0.0006228666,0.0002709647,0.0009479107,0.0005901378,0.00027825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005574668,"about_ca_system_score_gemma":0.0002934475,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005975225,"about_ca_topic_score_gemma":0.003917448,"domain_scores_codex":[0.9990055,0.000163528,0.0001226723,0.0003456184,0.0002592866,0.0001035152],"domain_scores_gemma":[0.9988986,0.0001688358,0.0002659777,0.00009954254,0.0002162608,0.0003507565],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00429769,0.002074881,0.7599897,0.0001797332,0.0005475148,0.1143869,0.009977596,0.0003031478,0.09251037,0.0009967943,0.0008376033,0.01389807],"study_design_scores_gemma":[0.0000932446,0.002227923,0.8799409,0.00005361664,0.0001866507,0.1065835,0.00154789,0.0008254017,0.006452681,0.0002141649,0.001819853,0.00005418862],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990896,0.00009660124,0.0001834355,0.00003469509,0.00001651127,0.00004772855,0.0001538353,0.000003447054,0.000374149],"genre_scores_gemma":[0.9986771,0.0001044727,0.00049321,0.0000700707,0.00002488268,0.0000241022,0.0001683626,0.00001190574,0.000425819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005975225,"threshold_uncertainty_score":0.01188087,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02275576930806781,"score_gpt":0.2853107731925107,"score_spread":0.2625550038844429,"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."}}