{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000263557,0.0008935354,0.0004096485,0.001402697,0.001187771,0.0005743694,0.0005529025,0.001817064,0.001543541],"category_scores_gemma":[0.00141057,0.0003467814,0.0004474216,0.0007223093,0.0006788795,0.0003497024,0.0008319193,0.0008890133,0.0004052928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005683616,"about_ca_system_score_gemma":0.0003280378,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004163017,"about_ca_topic_score_gemma":0.00546529,"domain_scores_codex":[0.9996694,0.00002500072,0.00004182124,0.0001460498,0.00005396021,0.00006369124],"domain_scores_gemma":[0.9995277,0.0001324002,0.0001199383,0.00003013283,0.00003352579,0.000156357],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002398972,0.0001084595,0.08051752,0.00005316754,0.00004976062,0.8919263,0.002156005,0.0003162315,0.01593385,0.0003158208,0.0009951555,0.007387801],"study_design_scores_gemma":[0.00001312353,0.0002090837,0.1059977,0.00003768307,0.00007720422,0.888456,0.0004852491,0.0009515495,0.00234626,0.0002951282,0.001098287,0.0000326801],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973357,0.0002215515,0.0005271097,0.0003659178,0.00002744709,0.00002421169,0.0002507502,0.00003603804,0.001211133],"genre_scores_gemma":[0.9986653,0.0001154834,0.0004231565,0.000160935,0.00004067433,0.000005298529,0.0001041801,0.00001200211,0.0004729008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004163017,"threshold_uncertainty_score":0.008277595,"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."}}