{"id":"W2132284241","doi":"10.1093/hmg/ddu306","title":"16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"National Health and Medical Research Council; Münchner Zentrum für Gesundheitswissenschaften; Exzellenzclusters Entzündungsforschung; Universität zu Köln; Medizinische Universität Graz; Medizinische Universität Innsbruck; European Social Fund; Fondation Leenaards; Medizinische Universität Wien; Medical Research Council; Universität Wien; Universität Innsbruck; Bundesministerium für Bildung und Forschung; European Science Foundation; Deutsche Forschungsgemeinschaft; Karl-Franzens-Universität Graz; Universiteit Antwerpen; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Danish Cancer Society Research Center; Simons Foundation Autism Research Initiative; Austrian Science Fund; Simons Foundation; Philipps-Universität Marburg; McMaster University; National Science Foundation","keywords":"Rolandic epilepsy; Epilepsy; Biology; Copy-number variation; Etiology; Genetics; Epilepsy syndromes; Neuroscience; Pathology; Gene; Medicine; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001538703,0.0001699779,0.0001565103,0.00003542363,0.000248139,0.00005242959,0.0001602052,0.0001799057,0.00003332681],"category_scores_gemma":[0.00006509534,0.0001732356,0.00009869215,0.00003473609,0.0001149156,0.000001972388,0.0001032029,0.00008808279,0.0000130974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008541095,"about_ca_system_score_gemma":0.00003367958,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004389483,"about_ca_topic_score_gemma":0.00001949702,"domain_scores_codex":[0.9989647,0.0000815744,0.0002396238,0.0003723844,0.00008636514,0.0002553068],"domain_scores_gemma":[0.9992471,0.00001973574,0.00008546967,0.0004239531,0.00009998969,0.0001236895],"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":[0.0004890551,0.0002940739,0.08953633,0.00009098893,0.0003406219,0.000002679584,0.0002664904,0.0006487565,0.7975386,0.1034336,0.003453931,0.003904846],"study_design_scores_gemma":[0.002665805,0.001317182,0.7193341,0.00001497786,0.0002780307,0.00004954197,0.00009224443,0.002080718,0.05765593,0.01860658,0.1970918,0.000813021],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9344493,0.0005482254,0.06405836,0.0001148896,0.00005533448,0.0002681883,0.00006163114,0.0000157749,0.0004282948],"genre_scores_gemma":[0.9939553,0.0001182418,0.004696234,0.0002920146,0.0002518799,0.00008122055,0.0002807003,0.00003495766,0.000289424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7398826,"threshold_uncertainty_score":0.7064344,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007395386913890104,"score_gpt":0.238324826240403,"score_spread":0.2309294393265129,"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."}}