{"id":"W3107497483","doi":"10.1016/j.parkreldis.2020.11.021","title":"Exome-wide rare variant analysis in familial essential tremor","year":2020,"lang":"en","type":"article","venue":"Parkinsonism & Related Disorders","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Saskatchewan; McGill University; Saskatchewan Health Authority; Saskatchewan Health; Montreal Neurological Institute and Hospital; University of British Columbia","funders":"National Human Genome Research Institute; European Social Fund; National Heart, Lung, and Blood Institute; University of Washington; European Regional Development Fund; National Institutes of Health; Center for Mendelian Genomics, University of Washington; Ministerio de Ciencia e Innovación","keywords":"Exome sequencing; Candidate gene; Biology; Genetics; Missing heritability problem; Exome; Essential tremor; Genetic association; Gene; Genetic predisposition; Disease; Heritability; Genetic heterogeneity; Single-nucleotide polymorphism; Medicine; Phenotype; Genotype; Internal medicine","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":[0.0003398811,0.0006386574,0.0004677146,0.0009099382,0.0006576183,0.0005932333,0.0003676497,0.001088413,0.003928768],"category_scores_gemma":[0.0009076185,0.000143078,0.0008146294,0.0006774738,0.0002677678,0.0002033312,0.000383239,0.000408204,0.0004940673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002214493,"about_ca_system_score_gemma":0.0002128788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002026509,"about_ca_topic_score_gemma":0.005800882,"domain_scores_codex":[0.9996116,0.00005097604,0.00005662414,0.0001643383,0.00007147989,0.00004501642],"domain_scores_gemma":[0.9996643,0.0001734892,0.00006783859,0.0000215872,0.0000284459,0.0000443003],"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":[0.007296267,0.000385451,0.3333173,0.0006920223,0.00306348,0.2041581,0.001419659,0.004336355,0.3578253,0.002962867,0.008901129,0.07564202],"study_design_scores_gemma":[0.0006674727,0.0008943189,0.8120425,0.0002176118,0.002916458,0.1257903,0.0007205341,0.007659063,0.02747472,0.002197028,0.01927937,0.0001407176],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99148,0.001324015,0.001844858,0.0003392734,0.00007435364,0.0000268166,0.003072728,0.00007484582,0.001763098],"genre_scores_gemma":[0.9967861,0.000210957,0.0006943927,0.000143958,0.00003088499,0.000007901949,0.001364185,0.00001781017,0.0007438565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003928768,"threshold_uncertainty_score":0.01314306,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01033152036915802,"score_gpt":0.2377102181423554,"score_spread":0.2273786977731973,"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."}}