{"id":"W3023783526","doi":"10.1055/s-0040-1710524","title":"Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy","year":2020,"lang":"en","type":"article","venue":"Neuropediatrics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital","funders":"","keywords":"Epilepsy; Exome sequencing; Medicine; Neurofibromatosis; West Syndrome; Exome; Etiology; Epilepsy syndromes; Loss function; Cohort; Genetics; Bioinformatics; Phenotype; Internal medicine; Gene; Pathology; Biology; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003127464,0.0001719964,0.0003542494,0.0001856245,0.00006912727,0.00003621694,0.0002175994,0.00006995034,0.00001559946],"category_scores_gemma":[0.001072406,0.000136279,0.0001109958,0.001186086,0.00003246188,0.0000941484,0.00008526428,0.0002329558,0.0001341118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005901355,"about_ca_system_score_gemma":0.0002118718,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005203512,"about_ca_topic_score_gemma":0.000005880943,"domain_scores_codex":[0.9981663,0.00005834638,0.0007733291,0.0004106712,0.0003235337,0.0002678132],"domain_scores_gemma":[0.9988811,0.0001762653,0.0002444355,0.0003706408,0.0001377572,0.0001898225],"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":[0.0002763792,0.0001147077,0.01964682,0.0003442397,0.0000199791,0.0005132497,0.0008603559,0.001387379,0.9742631,0.000202079,0.002002464,0.0003691864],"study_design_scores_gemma":[0.01286974,0.008949446,0.7414929,0.0002870467,0.001321105,0.004285073,0.0005835433,0.02171579,0.1756958,0.00008441357,0.03124258,0.001472603],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924989,0.0001753896,0.0003298839,0.005409822,0.0002705835,0.0009857955,0.0001666359,0.00005352432,0.0001094995],"genre_scores_gemma":[0.9973714,0.00007432682,0.0002386929,0.001813794,0.0001597206,0.00004546744,0.00005614304,0.00005381594,0.0001866032],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7985674,"threshold_uncertainty_score":0.5557296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0320572276408355,"score_gpt":0.2658649643544793,"score_spread":0.2338077367136438,"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."}}