{"id":"W3113859479","doi":"10.1093/brain/awaa410","title":"<i>De novo</i> stop-loss variants in <i>CLDN11</i> cause hypomyelinating leukodystrophy","year":2020,"lang":"en","type":"article","venue":"Brain","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; BC Children's Hospital; University of British Columbia","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; National Ataxia Foundation; Genome British Columbia; Stichting Metakids; Bundesministerium für Bildung und Forschung; BC Children's Hospital; Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Myelin; White matter; Leukodystrophy; Genetics; Exome sequencing; Compound heterozygosity; Mutation; Gene; Neuroscience; Medicine; Central nervous system; Pathology; Magnetic resonance imaging","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001149641,0.0001135853,0.0001043704,0.0000234528,0.0000393877,0.00003077593,0.0001383737,0.00008928867,0.00003962823],"category_scores_gemma":[0.0003304594,0.0001212187,0.0000574515,0.0001317668,0.00003457844,0.000004802278,0.0001019578,0.00007376592,0.00002537625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001476205,"about_ca_system_score_gemma":0.0001086853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001097016,"about_ca_topic_score_gemma":0.000008409187,"domain_scores_codex":[0.9991515,0.00007171959,0.0001745009,0.0002785182,0.00009865964,0.0002250962],"domain_scores_gemma":[0.9995506,0.00001464243,0.00004840048,0.0001739928,0.00002795865,0.0001843474],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002084819,0.00009021412,0.02061993,0.00003636679,0.00002476884,0.0001667142,0.0002599631,0.0008451511,0.9601784,0.0006302003,0.01238766,0.004552115],"study_design_scores_gemma":[0.02173958,0.001287159,0.3341397,0.0001452586,0.00009877513,0.0002640818,0.001006319,0.01492106,0.1719191,0.001546457,0.4500798,0.002852644],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897633,0.0001854108,0.001618287,0.00553859,0.00005280104,0.0001296206,0.00002837736,0.00002347693,0.002660162],"genre_scores_gemma":[0.9891856,0.00001090375,0.0005881589,0.009344478,0.0002895112,0.00001110463,0.00006165044,0.00002004632,0.0004886002],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7882593,"threshold_uncertainty_score":0.4943156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01353435310084544,"score_gpt":0.2480439153822973,"score_spread":0.2345095622814519,"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."}}