{"id":"W4405529411","doi":"10.1186/s13073-024-01411-7","title":"Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression","year":2024,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; Johns Hopkins University; National Heart, Lung, and Blood Institute; Intellectual and Developmental Disabilities Research Center; Baylor-Hopkins Center for Mendelian Genomics; International Rett Syndrome Foundation","keywords":"Gene duplication; Biology; Tandem exon duplication; Structural variation; Genetics; Copy-number variation; Segmental duplication; Breakpoint; MECP2; Comparative genomic hybridization; Genomics; Phenotype; Genome; Computational biology; Gene; Gene family; Chromosomal translocation","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":[0.0004332421,0.0001335703,0.0001985023,0.00005220817,0.00003255211,0.000007721101,0.0001155284,0.00008465613,0.00001919085],"category_scores_gemma":[0.0001499952,0.0001041346,0.00003879769,0.0001007754,0.0002159569,0.000005008614,0.0001673996,0.00009344276,0.00000102619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001362107,"about_ca_system_score_gemma":0.00007977614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003494621,"about_ca_topic_score_gemma":0.00003256886,"domain_scores_codex":[0.9987421,0.0001266972,0.000396866,0.0004786923,0.0001248771,0.0001307543],"domain_scores_gemma":[0.9994799,0.00002513693,0.00005200967,0.0002805278,0.00003244244,0.0001299394],"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":[0.0001905804,0.00008416255,0.0535483,0.0004713685,0.00004191408,0.00002890972,0.0004295144,0.00003039013,0.9398679,0.00006570155,0.00004363163,0.005197634],"study_design_scores_gemma":[0.0004544114,0.0002919764,0.9918879,0.00006502036,0.00002225697,0.00001769531,0.00002147394,0.0004422915,0.003556661,0.0009939595,0.002110419,0.0001359432],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953586,0.003164933,0.0003834739,0.0005840774,0.0001479471,0.0002930655,0.00001215305,0.000008457056,0.0000472506],"genre_scores_gemma":[0.9983423,0.0009106799,0.0004029792,0.0001292816,0.00003273636,0.00002125566,0.0001286598,0.00001211669,0.00002002226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9383396,"threshold_uncertainty_score":0.4246485,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01549934140586597,"score_gpt":0.2887185917355886,"score_spread":0.2732192503297227,"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."}}