{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002131467,0.001476103,0.00037983,0.000885561,0.0007725883,0.0004815919,0.0004604595,0.001532115,0.003216645],"category_scores_gemma":[0.0008728082,0.0001904395,0.0003986046,0.0005502194,0.0005985182,0.0002742015,0.0006615335,0.0005384319,0.00080001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005173829,"about_ca_system_score_gemma":0.0004387631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002603465,"about_ca_topic_score_gemma":0.003730572,"domain_scores_codex":[0.9998084,0.00002383592,0.00002632329,0.00005872767,0.00004829963,0.00003442745],"domain_scores_gemma":[0.9997767,0.00007067571,0.00004804539,0.00001168478,0.00002152751,0.00007139406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005915566,0.00009150938,0.01373954,0.0001301853,0.00006724719,0.9426154,0.000261875,0.0006705424,0.02797857,0.000931561,0.001988983,0.01093307],"study_design_scores_gemma":[0.0001074813,0.0004013792,0.07905456,0.00009382633,0.0001927916,0.885055,0.0002285652,0.002143591,0.02007053,0.001881182,0.0106999,0.00007113508],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898483,0.0009780348,0.001681041,0.0007854722,0.0001444077,0.00009301423,0.001126943,0.0001241421,0.005218649],"genre_scores_gemma":[0.9969667,0.0002250702,0.0006053344,0.0001796233,0.0000588332,0.00001331822,0.0003529093,0.00002104483,0.001577211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003216645,"threshold_uncertainty_score":0.01076078,"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."}}