{"id":"W2897128722","doi":"10.1002/humu.23632","title":"The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institutes of Health","keywords":"Bridging (networking); Biology; Data curation; Computational biology; Gene; Domain (mathematical analysis); Genetics; Data science; Computer science","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":[0.0006712931,0.0001265664,0.0001015816,0.00002117216,0.0009598708,0.0001383654,0.0001422323,0.0001003479,0.000006935662],"category_scores_gemma":[0.00008412675,0.00008574271,0.00007312319,0.00004039269,0.0002064336,0.00002869839,0.00009961024,0.00006592975,0.00001143896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001280529,"about_ca_system_score_gemma":0.00004524883,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001205742,"about_ca_topic_score_gemma":0.00007525326,"domain_scores_codex":[0.9988596,0.0001992323,0.0003770588,0.0002737142,0.00008894586,0.0002014755],"domain_scores_gemma":[0.9993291,0.00005178528,0.0001568947,0.0002532269,0.0001459705,0.00006301641],"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":[0.0002872042,0.0001528489,0.01942448,0.00003202962,0.0002764802,0.000007272453,0.00472425,0.00001964026,0.7913793,0.001491907,0.006923448,0.1752811],"study_design_scores_gemma":[0.002775087,0.001690495,0.7294728,0.00004821925,0.0002341713,0.00006871155,0.001229751,0.002993385,0.170951,0.009451897,0.08016203,0.0009224549],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814441,0.001334557,0.01620175,0.0003219577,0.0002812155,0.0002658831,0.0000198869,0.00001253612,0.0001181762],"genre_scores_gemma":[0.9950095,0.0002767452,0.0003165862,0.0001626987,0.00347494,0.00003525053,0.0006407545,0.00001875818,0.00006471634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7100483,"threshold_uncertainty_score":0.7382647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05321145333797273,"score_gpt":0.3708982874873372,"score_spread":0.3176868341493645,"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."}}