{"id":"W3044356276","doi":"10.1002/mgg3.1418","title":"Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre","funders":"University of Social Welfare and Rehabilitation Sciences; Iran National Science Foundation; National Institute for Medical Research Development; National Science Foundation","keywords":"Genetics; Short stature; Gene duplication; Intellectual disability; Biology; Genetic linkage; Copy-number variation; X chromosome; Candidate gene; Gene; Genome; Comparative genomic hybridization","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002169535,0.0009098207,0.0004046915,0.001199718,0.0009633803,0.0003516734,0.000606706,0.0008989619,0.001380916],"category_scores_gemma":[0.0006846253,0.0002175027,0.0004691764,0.0008353876,0.0006893376,0.0001444697,0.0004820854,0.0004528576,0.0001455432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004991388,"about_ca_system_score_gemma":0.0005464549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004488847,"about_ca_topic_score_gemma":0.004832755,"domain_scores_codex":[0.9997889,0.00002464742,0.00001836544,0.00008268518,0.00004586696,0.00003952497],"domain_scores_gemma":[0.9997556,0.0001004068,0.00006004487,0.00001514408,0.00002145992,0.00004742214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000472189,0.0002251617,0.1933787,0.0001472039,0.0002054009,0.680493,0.003227367,0.001164053,0.09344826,0.0005752344,0.001476094,0.02518738],"study_design_scores_gemma":[0.000106629,0.0003332999,0.4045497,0.00005079137,0.0002008301,0.5780771,0.001021083,0.001493232,0.01067087,0.0003810868,0.003073832,0.00004140623],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984285,0.0002570185,0.0004984097,0.0001341138,0.000009091707,0.00002339079,0.0002174334,0.0000211679,0.0004108717],"genre_scores_gemma":[0.9982077,0.0001745635,0.0009743744,0.0001033545,0.00001846692,0.00001471211,0.0002660742,0.000007523789,0.0002332912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004488847,"threshold_uncertainty_score":0.008925438,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02230662566167554,"score_gpt":0.2361350974257725,"score_spread":0.2138284717640969,"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."}}