{"id":"W3165718938","doi":"10.1038/s41431-021-00900-2","title":"A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis","year":2021,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Instituto de Salud Carlos III; Institute of Genetics; Directorate for Biological Sciences; Université de Paris; Assistance publique-Hôpitaux de Paris; Radboud Universitair Medisch Centrum; Lily Foundation; Evelyn Trust; Univerzita Karlova v Praze; Eberhard Karls Universität Tübingen; European Commission; Ataxia UK; Third Health Programme; Newton Fund; Università degli Studi di Siena; Radboud Universiteit; Medical Research Council; Ospedale Pediatrico Bambino Gesù; Centre Hospitalier Universitaire de Bordeaux; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Karolinska Institutet; Institut National de la Santé et de la Recherche Médicale","keywords":"Heteroplasmy; Exome sequencing; Proband; Mitochondrial DNA; Epilepsy; Genetics; Intellectual disability; Tetraparesis; Medicine; Biology; Phenotype; Mutation; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004491022,0.000171109,0.0002027304,0.00005713269,0.00009527017,0.0001506623,0.0002671727,0.00003759938,0.00003176687],"category_scores_gemma":[0.0001045455,0.0001516877,0.00006253413,0.00009355952,0.0001800512,0.000008908371,0.0001816063,0.0001673141,0.000002092355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002923053,"about_ca_system_score_gemma":0.0001457411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000284874,"about_ca_topic_score_gemma":0.00008293329,"domain_scores_codex":[0.9984792,0.0003787565,0.0004381235,0.0002966181,0.0001883237,0.0002190048],"domain_scores_gemma":[0.9991918,0.00002516344,0.0001714028,0.0002685269,0.0001476185,0.0001955353],"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":[0.0001619272,0.0003444438,0.03235392,0.00005199386,0.0001832783,0.001760297,0.001813928,0.0006247557,0.9584587,0.000009870222,0.002165215,0.002071701],"study_design_scores_gemma":[0.01055792,0.01495769,0.7512772,0.0006465063,0.0009198241,0.007106914,0.01725408,0.0003070292,0.1716376,0.0004789841,0.02228526,0.002570971],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99641,0.002621253,0.0006211099,0.00004975692,0.00007104199,0.00006276536,0.00005213442,0.000002758479,0.0001091449],"genre_scores_gemma":[0.9985437,0.0001976658,0.0007274147,0.0001042397,0.0001899334,6.648383e-7,0.00008965602,0.00003945231,0.0001073017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7868211,"threshold_uncertainty_score":0.6185645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02112401614382444,"score_gpt":0.2437282376670481,"score_spread":0.2226042215232236,"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."}}