{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002099377,0.0003620093,0.000287372,0.0007440489,0.0002002037,0.0002263398,0.0002042249,0.0005145812,0.00379303],"category_scores_gemma":[0.00145807,0.0002666332,0.0003046618,0.0005026874,0.0002809943,0.0001272673,0.0003173048,0.0002480846,0.0003277286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000133015,"about_ca_system_score_gemma":0.0001050512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001459635,"about_ca_topic_score_gemma":0.001552856,"domain_scores_codex":[0.999738,0.0000540887,0.0000343995,0.0001011696,0.00003736855,0.00003487896],"domain_scores_gemma":[0.9992792,0.0002833809,0.0002645045,0.00004546092,0.00002315491,0.0001044118],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001279761,0.00004812416,0.9653814,0.00003255657,0.0001656444,0.002747566,0.000165971,0.000161126,0.02354655,0.00009520745,0.0001747251,0.006201399],"study_design_scores_gemma":[0.00004771566,0.0001728252,0.9899277,0.000007179366,0.00007176131,0.008186409,0.00008811317,0.0002758843,0.0008898767,0.00009196566,0.0002343732,0.000006194888],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995874,0.00009896843,0.00007025646,0.00001375022,0.000001391874,0.000001983271,0.00009880349,0.000004493183,0.0001229336],"genre_scores_gemma":[0.9994521,0.0000604964,0.000131774,0.00001011411,0.000005040898,0.000003709694,0.0001662405,0.000002696917,0.0001679844],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00379303,"threshold_uncertainty_score":0.01268893,"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."}}