{"id":"W4289637416","doi":"10.1177/08830738221113901","title":"Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences","year":2022,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; NeuroDevNet; University of British Columbia","funders":"National Institute of Mental Health; Alva Foundation","keywords":"Exome sequencing; Autonomy; Genetic testing; Medicine; Psychology; Test (biology); Clinical psychology; Exome; Epilepsy; Developmental psychology; Psychiatry; Mutation; Genetics; Internal medicine","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":[0.002423216,0.0004730363,0.0007048922,0.0005861609,0.003445614,0.001968201,0.0007155658,0.000939528,0.001562997],"category_scores_gemma":[0.009836229,0.000468475,0.0003520741,0.0006010543,0.002584379,0.00186081,0.002611703,0.001957361,0.0001977061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001756408,"about_ca_system_score_gemma":0.001919043,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005377986,"about_ca_topic_score_gemma":0.01016224,"domain_scores_codex":[0.9981767,0.001113754,0.00007079731,0.0001331089,0.0001931069,0.0003125759],"domain_scores_gemma":[0.9940807,0.003487219,0.001139737,0.0001754674,0.0004154317,0.0007012898],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.0001434633,0.000104253,0.05182795,0.000138633,0.00002055159,0.010991,0.9249932,0.00007823214,0.00111779,0.0005597959,0.00116676,0.008858399],"study_design_scores_gemma":[0.00001305271,0.0002116803,0.01871577,0.0001439378,0.00002238288,0.01119615,0.9624324,0.0000981553,0.0005174002,0.0002845431,0.006328363,0.00003614039],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977602,0.0006280841,0.0002698333,0.0004786419,0.000022448,0.00001293472,0.00003364944,0.000006383334,0.0007877914],"genre_scores_gemma":[0.9982985,0.0007579383,0.0002435059,0.0002358628,0.000008605503,0.00002579755,0.00003225026,0.000006588209,0.000391027],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005377986,"threshold_uncertainty_score":0.0128153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006027872995505761,"score_gpt":0.2079834018629837,"score_spread":0.201955528867478,"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."}}