{"id":"W4206696589","doi":"10.3410/f.736213195.793581702","title":"Faculty Opinions recommendation of Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.","year":2021,"lang":"en","type":"dataset","venue":"Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Exome sequencing; Epilepsy; Missense mutation; Genetics; Copy-number variation; Biology; Gene; Exome; Phenotype; Epilepsy syndromes; Generalized epilepsy; Neuroscience; Genome","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":[0.002769095,0.0005350077,0.000751447,0.002234538,0.001822056,0.002822245,0.001050912,0.004516475,0.2748896],"category_scores_gemma":[0.01936506,0.000422043,0.0007475395,0.003328024,0.0004159067,0.001686703,0.001090329,0.002366709,0.1366223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001356145,"about_ca_system_score_gemma":0.006129002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01247561,"about_ca_topic_score_gemma":0.02677733,"domain_scores_codex":[0.9983844,0.0002157368,0.0001915106,0.000241937,0.0007958055,0.0001706192],"domain_scores_gemma":[0.9807613,0.001561922,0.001183422,0.0009590305,0.01120624,0.004328029],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.00003012885,0.00001717795,0.001588661,0.000089643,0.000009496868,0.00004733523,0.00001509941,0.00001567329,0.0001658097,0.0001214196,0.9788476,0.01905199],"study_design_scores_gemma":[0.0001036496,0.00004743978,0.01506337,0.0003778168,0.000023362,0.0001841081,0.0001579231,0.0001114336,0.0002056377,0.00111997,0.9825779,0.00002753221],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"dataset","genre_scores_codex":[0.008028022,0.007393067,0.005014948,0.4748999,0.08922599,0.001553697,0.1577547,0.002143699,0.2539859],"genre_scores_gemma":[0.02639746,0.01389924,0.009930892,0.1415561,0.05499263,0.001746198,0.07548683,0.001522424,0.6744682],"genre_candidate":"dataset","genre_consensus":null,"teacher_disagreement_score":0.2748896,"threshold_uncertainty_score":0.9195972,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02722345290027943,"score_gpt":0.3274838508830585,"score_spread":0.300260397982779,"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."}}