{"id":"W2803204024","doi":"10.1136/jmedgenet-2018-105319","title":"Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses","year":2018,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"Medical Research Council; Waterloo Foundation; Wellcome Trust; Wellcome; Eli Lilly and Company","keywords":"Copy-number variation; Epilepsy; Rolandic epilepsy; Genetics; Gene duplication; Biology; Medicine; Bioinformatics; Neuroscience; Gene","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":[0.0006082961,0.0001038846,0.0003093462,0.0001278539,0.0001182607,0.00001443587,0.00011243,0.0001253892,0.0002524727],"category_scores_gemma":[0.001305367,0.00006822197,0.000121573,0.0000937697,0.0001994846,0.00003314393,0.00005702834,0.0001714049,0.000008496793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007945036,"about_ca_system_score_gemma":0.000326972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001667268,"about_ca_topic_score_gemma":0.00005316185,"domain_scores_codex":[0.9981416,0.00005108695,0.0006293474,0.000125887,0.0008630833,0.0001890122],"domain_scores_gemma":[0.9981704,0.0002830607,0.0003958933,0.0001676306,0.0003141829,0.0006688741],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009880628,0.0005335865,0.9249325,0.0001444739,0.0006548876,0.000044611,0.001314879,0.00001958916,0.01169154,0.00005599581,0.04606269,0.01355721],"study_design_scores_gemma":[0.01051154,0.007568703,0.867366,0.0003015057,0.001080966,0.0005845482,0.0002554741,0.004606284,0.08603705,0.00100558,0.02049206,0.0001902678],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992721,0.002563952,0.002147691,0.002032897,0.0002326077,0.0002304599,0.00003123259,0.000004245909,0.00003590659],"genre_scores_gemma":[0.9904656,0.006837653,0.0008204745,0.00007242937,0.0008162035,0.000003225249,0.00002218247,0.00001259076,0.0009496294],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07434551,"threshold_uncertainty_score":0.2782011,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03657217822654351,"score_gpt":0.3560921864432214,"score_spread":0.3195200082166779,"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."}}