{"id":"W2947999957","doi":"10.1101/648576","title":"Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks <i>de novo</i> variants linked to Dravet syndrome in novel <i>SCN1A</i> exons","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":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Dravet syndrome; Genetics; Gene; Exon; Exome sequencing; Biology; Epilepsy; Phenotype; Exome; Intellectual disability; Human genome; Computational biology; Genome; Bioinformatics; Neuroscience","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":[0.0002109941,0.0003318723,0.0004527103,0.0008313011,0.0002685873,0.0004157907,0.0002098997,0.0002686129,0.0009837131],"category_scores_gemma":[0.000895671,0.0001198193,0.0006877073,0.0008674634,0.0001617067,0.0001354576,0.0003407021,0.0003189748,0.000645168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002305463,"about_ca_system_score_gemma":0.0004509926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001324321,"about_ca_topic_score_gemma":0.003739699,"domain_scores_codex":[0.9997113,0.00003638568,0.00003370727,0.0001101571,0.0000667115,0.00004165843],"domain_scores_gemma":[0.9995059,0.0001857564,0.0001243146,0.00006814633,0.00006606228,0.00004995839],"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":[0.001202711,0.00007419946,0.1019419,0.0008613319,0.000214945,0.005886449,0.000729219,0.001347658,0.8333327,0.0002884618,0.001419533,0.05270092],"study_design_scores_gemma":[0.000142844,0.0004886539,0.7654901,0.0003383106,0.001272116,0.01657942,0.0008089461,0.01151325,0.1594604,0.0006013791,0.04322179,0.00008286768],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814411,0.001067681,0.005092588,0.0001218965,0.00004337245,0.00004649379,0.01112303,0.0002029871,0.0008607683],"genre_scores_gemma":[0.9459748,0.001050625,0.01612188,0.0001909695,0.0000473834,0.00006957149,0.03546958,0.0001383755,0.0009368879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001324321,"threshold_uncertainty_score":0.003290832,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01011596221656003,"score_gpt":0.2106543843478781,"score_spread":0.2005384221313181,"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."}}