{"id":"W2964486161","doi":"10.1101/728816","title":"Polygenic risk scores of several subtypes of epilepsies in a founder population","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi","funders":"Compute Canada; Genome Canada","keywords":"Gee; Epilepsy; Idiopathic generalized epilepsy; Heritability; Cohort; Generalized epilepsy; Population; Medicine; Generalized estimating equation; Genotyping; Endophenotype; Psychiatry; Pediatrics; Psychology; Internal medicine; Biology; Genetics; Genotype; Cognition","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001530191,0.0007523664,0.0004503907,0.002041795,0.000924043,0.000873042,0.000655255,0.0006109824,0.003406805],"category_scores_gemma":[0.00478356,0.0002214077,0.001205313,0.002055311,0.0004933696,0.0002383869,0.0005307513,0.0005086676,0.000173365],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001136361,"about_ca_system_score_gemma":0.001412985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3320271,"about_ca_topic_score_gemma":0.1833521,"domain_scores_codex":[0.9987825,0.0003127164,0.00007335203,0.0004883376,0.000195178,0.0001479594],"domain_scores_gemma":[0.998089,0.000597768,0.0004786447,0.0002573137,0.0003459095,0.0002313808],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002741719,0.00002141192,0.9921181,0.00001471314,0.0007304115,0.0003235138,0.0002188025,0.0005753337,0.0008597023,0.0002959807,0.0004102903,0.004157637],"study_design_scores_gemma":[0.0000135751,0.00005883118,0.9962805,0.00000823744,0.0002158006,0.0004978328,0.0001151028,0.002147062,0.00009459852,0.0001580129,0.0003963538,0.00001408691],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966205,0.0003151453,0.001060471,0.0001258467,0.00001022132,0.00001696563,0.00120582,0.00002714884,0.0006179122],"genre_scores_gemma":[0.998094,0.0001025518,0.000678607,0.00001835284,0.000008377548,0.00000938939,0.0006923784,0.000009174641,0.000387118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3320271,"threshold_uncertainty_score":0.6601889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007328916530991046,"score_gpt":0.2123048852364128,"score_spread":0.2049759687054218,"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."}}