{"id":"W2783087730","doi":"10.14802/jmd.17066","title":"PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder","year":2018,"lang":"en","type":"article","venue":"Journal of Movement Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Canada Excellence Research Chairs, Government of Canada; Genome British Columbia; Consortium canadien en neurodégénérescence associée au vieillissement","keywords":"Medicine; PSEN1; Exome sequencing; Dystonia; Myoclonus; Proband; Movement disorders; Bioinformatics; Disease; Presenilin; Genetics; Psychiatry; Mutation; Alzheimer's disease; Pathology; Biology","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":[0.0001514878,0.0001531177,0.0001650757,0.0001272131,0.00007014148,0.00002975598,0.0001506303,0.00004182716,0.00003661743],"category_scores_gemma":[0.00003106453,0.0001313221,0.00009475917,0.0001182403,0.00009380417,0.000007156227,0.0000970347,0.00008153853,0.000001265039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001135577,"about_ca_system_score_gemma":0.0000596939,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003061447,"about_ca_topic_score_gemma":0.0003471608,"domain_scores_codex":[0.9989895,0.00006657006,0.0003633189,0.0002094991,0.0001665318,0.0002045769],"domain_scores_gemma":[0.9994596,0.000006901143,0.0002008023,0.0001449021,0.00009122668,0.00009656893],"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":[0.001617077,0.002793028,0.4408992,0.00008925628,0.000485108,0.00005440812,0.0009265533,0.002110361,0.4852088,0.001504846,0.0322395,0.03207192],"study_design_scores_gemma":[0.008614858,0.007030485,0.8916316,0.00002982032,0.000121802,0.00002084969,0.001969805,0.001210752,0.00616577,0.007223472,0.07514858,0.0008322096],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960934,0.001140266,0.0005836089,0.001407565,0.0002316043,0.0001584237,0.00001256852,0.000001896098,0.0003706676],"genre_scores_gemma":[0.9950297,0.001158682,0.0004477341,0.003022805,0.0002221605,0.000004052873,0.0000117563,0.00001874583,0.00008437432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.479043,"threshold_uncertainty_score":0.5355158,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006799009970427751,"score_gpt":0.2395673664000713,"score_spread":0.2327683564296435,"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."}}