{"id":"W2093980869","doi":"10.1016/j.neurobiolaging.2014.12.032","title":"The distinct genetic pattern of ALS in Turkey and novel mutations","year":2015,"lang":"de","type":"article","venue":"Neurobiology of Aging","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":103,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Boğaziçi Üniversitesi; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; ALS Association","keywords":"Amyotrophic lateral sclerosis; TARDBP; C9orf72; Genetics; Mutation; SOD1; Exome sequencing; Biology; Korean population; Population; Genetic heterogeneity; Gene; Medicine; Trinucleotide repeat expansion; Allele; Disease; Pathology; Phenotype; Mutant","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":[0.0001562046,0.0005725605,0.0003085274,0.001885422,0.0004623477,0.000397197,0.0004589673,0.0005753499,0.002878568],"category_scores_gemma":[0.0004114604,0.0001838091,0.0005118008,0.0008976224,0.0004392038,0.0002416216,0.00037963,0.0002937902,0.0003064437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004249338,"about_ca_system_score_gemma":0.000294459,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003289876,"about_ca_topic_score_gemma":0.003329209,"domain_scores_codex":[0.9997084,0.0000312999,0.00005543927,0.0001126211,0.00004832862,0.00004389809],"domain_scores_gemma":[0.9997895,0.00004610692,0.00007965316,0.00001284488,0.00003763863,0.0000342356],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006517984,0.0004159556,0.4044356,0.0004418152,0.00065208,0.1060825,0.002499051,0.00190912,0.4007124,0.004534198,0.00209696,0.06970234],"study_design_scores_gemma":[0.0001574693,0.0006435143,0.8605162,0.0001098912,0.0004836979,0.1061458,0.0016341,0.00122678,0.02219205,0.001492236,0.005316924,0.00008139289],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975466,0.0002830618,0.0003909648,0.00008641421,0.00002009086,0.000006667096,0.0002982728,0.00001488951,0.00135303],"genre_scores_gemma":[0.9985746,0.0001458705,0.0004538682,0.0000260838,0.00000897648,0.000003593221,0.0002353942,0.000009128009,0.0005425386],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003289876,"threshold_uncertainty_score":0.009629786,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05012300634372351,"score_gpt":0.3114642372091057,"score_spread":0.2613412308653822,"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."}}