{"id":"W2859968762","doi":"10.1111/epi.14506","title":"Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy","year":2018,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"National Health and Medical Research Council","keywords":"Pedigree chart; Juvenile myoclonic epilepsy; Genetic linkage; Epilepsy; Genetics; Idiopathic generalized epilepsy; Haplotype; Dystonia; Exome sequencing; Phenotype; Generalized epilepsy; Biology; Medicine; Neuroscience; Allele; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000372972,0.001024802,0.0003410532,0.001060731,0.0007513411,0.0002858758,0.0004059716,0.0003942731,0.00276431],"category_scores_gemma":[0.0008480315,0.0003785338,0.0003592716,0.0005009904,0.000727113,0.0001283197,0.0004547312,0.0004101156,0.0002527553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002681557,"about_ca_system_score_gemma":0.0002206783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002644943,"about_ca_topic_score_gemma":0.003253694,"domain_scores_codex":[0.9996756,0.0000913847,0.00002588026,0.00011676,0.000052404,0.00003791161],"domain_scores_gemma":[0.9996768,0.0001160081,0.00008204269,0.00003563872,0.00001784569,0.0000716951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002138991,0.001074543,0.6762203,0.0001264436,0.0005842347,0.1007142,0.002873297,0.0008051934,0.1894326,0.00096522,0.0008209735,0.02424402],"study_design_scores_gemma":[0.000178807,0.000953341,0.9155166,0.00003209972,0.000250591,0.07485747,0.0004397109,0.001191749,0.004744942,0.0002791127,0.001512157,0.00004351405],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993543,0.00005512056,0.0002967847,0.00002539216,0.000002914326,0.000007653196,0.0000395922,0.000006620131,0.0002116218],"genre_scores_gemma":[0.9991647,0.00006642294,0.0003744597,0.00002435381,0.000008890283,0.000007195144,0.0001239405,0.000004560071,0.0002254787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00276431,"threshold_uncertainty_score":0.009247541,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03887231718951801,"score_gpt":0.3293231547195296,"score_spread":0.2904508375300116,"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."}}