{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002308122,0.0004381163,0.000447152,0.0000894234,0.0001086536,0.00003938288,0.0004690592,0.0001688994,0.00002866629],"category_scores_gemma":[0.0001321836,0.0004086699,0.00008968936,0.0004326668,0.0003669832,0.000005055227,0.0003143489,0.0002591094,0.00002413723],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001038819,"about_ca_system_score_gemma":0.0001884434,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005475702,"about_ca_topic_score_gemma":0.0001427904,"domain_scores_codex":[0.9972457,0.0001554507,0.0006169347,0.001031233,0.0003259394,0.0006246995],"domain_scores_gemma":[0.9988471,0.0000201918,0.0001516809,0.0005885099,0.00008801744,0.0003045212],"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":[0.0001882766,0.00006478875,0.003591704,0.0000591154,0.00006111348,0.0000826252,0.002325458,0.00143432,0.9914812,0.000006650679,0.0001604043,0.0005443518],"study_design_scores_gemma":[0.01454376,0.005654546,0.4917449,0.0004027587,0.0003698133,0.0002842165,0.01074288,0.009430663,0.3776321,0.0003361782,0.08535583,0.003502394],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9728318,0.003569182,0.02069917,0.001856049,0.00007941322,0.0006144283,0.00001779593,0.00002981909,0.0003023612],"genre_scores_gemma":[0.9950792,0.000567933,0.000849074,0.002947897,0.00008041511,0.00004146864,0.0002894393,0.00009069816,0.00005383688],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6138491,"threshold_uncertainty_score":0.9998365,"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."}}