{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001350921,0.0005086145,0.0002542628,0.0006836229,0.0002689132,0.0002128904,0.0001795042,0.0004539002,0.001706518],"category_scores_gemma":[0.0006306096,0.0001196485,0.0002827082,0.0003977806,0.0001370282,0.0001072745,0.0002564176,0.0001806565,0.0002082001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001559913,"about_ca_system_score_gemma":0.00009261566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001453839,"about_ca_topic_score_gemma":0.002336443,"domain_scores_codex":[0.9998819,0.00001503947,0.00001930671,0.00003840316,0.00002625665,0.00001917345],"domain_scores_gemma":[0.9997489,0.000108231,0.00005028231,0.00001865372,0.00002615014,0.00004777603],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.001668412,0.0002523002,0.3577038,0.000288642,0.0004607886,0.1800325,0.0009909259,0.001362546,0.4233783,0.0004691783,0.001991869,0.03140068],"study_design_scores_gemma":[0.0001236581,0.0003585986,0.8115751,0.00009326678,0.0003702567,0.1327347,0.0003356197,0.003501691,0.04560488,0.0004075676,0.004857532,0.0000371452],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983714,0.0002140061,0.0005310859,0.00003670989,0.00000687692,0.00001275641,0.0005142202,0.00001060839,0.0003023406],"genre_scores_gemma":[0.9983587,0.000127746,0.0005637259,0.00005885609,0.000009599091,0.000008627421,0.0005627561,0.00001099003,0.0002990006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001706518,"threshold_uncertainty_score":0.005708873,"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."}}