{"id":"W2982458090","doi":"10.1038/s41467-019-12671-y","title":"Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":166,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"Allergan; Epilepsy Society; Ministero della Salute; National Health and Medical Research Council; Fondation Maladies Rares; European Commission; Fonds Psychische Gezondheid; University College London; Ipsen; Istituto Superiore di Sanità; National Institute for Health and Care Research","keywords":"Genetics; Locus (genetics); Biology; Gene; Myoclonic epilepsy; Pedigree chart; Epilepsy; Intron; Neuroscience","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":[0.0002193758,0.000226003,0.0004560729,0.0004146089,0.00009457659,0.00001976713,0.0007913537,0.0004075047,0.0001421091],"category_scores_gemma":[0.0004992468,0.0002185384,0.0001616976,0.0009736746,0.00006984615,0.0001142554,0.0004530932,0.001787743,0.00039202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004681898,"about_ca_system_score_gemma":0.0003751309,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005092669,"about_ca_topic_score_gemma":0.006227121,"domain_scores_codex":[0.9981844,0.0001579881,0.0005006743,0.0004219442,0.0002924967,0.0004425158],"domain_scores_gemma":[0.9960279,0.0002149336,0.00008286633,0.003172247,0.0002463637,0.0002556963],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002699217,0.007602039,0.798653,0.0005077905,0.0004238184,0.001454109,0.01189394,0.0007229495,0.08525626,0.04571042,0.02755509,0.0175214],"study_design_scores_gemma":[0.008129712,0.0007411382,0.8488101,0.001063126,0.0001660859,0.0001726723,0.002443464,0.001594905,0.0001745824,0.0002776273,0.1356605,0.0007660178],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9773432,0.006954249,0.000004226386,0.01111933,0.000319194,0.001415015,0.00007462403,0.0000866058,0.002683565],"genre_scores_gemma":[0.9920172,0.001304654,0.001721957,0.003578166,0.00009046491,0.0002108572,0.0004206815,0.00003946836,0.0006165531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1081054,"threshold_uncertainty_score":0.8911738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01169458761508876,"score_gpt":0.2993918045155831,"score_spread":0.2876972169004944,"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."}}