{"id":"W2347541292","doi":"","title":"Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.","year":2015,"lang":"en","type":"article","venue":"PubMed","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto","funders":"","keywords":"Exome sequencing; Genetics; Intellectual disability; Gene; Exome; Biology; Allele; Consanguinity; Disease; Heterozygote advantage; Human genetics; Mutation; Medicine; Internal medicine","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":[0.0002465751,0.0006744977,0.0002179736,0.001201553,0.0009856325,0.0003143394,0.0003290827,0.0008412348,0.001676128],"category_scores_gemma":[0.0009177817,0.0001584166,0.0002887969,0.0005777579,0.0004183029,0.0002406078,0.000404479,0.0003807487,0.0002260392],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002986749,"about_ca_system_score_gemma":0.0004796679,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005320789,"about_ca_topic_score_gemma":0.007569482,"domain_scores_codex":[0.9998053,0.00001984004,0.00002005534,0.00007592318,0.00003861557,0.00004032111],"domain_scores_gemma":[0.9998191,0.00005943865,0.00003129876,0.00001120477,0.00002778055,0.00005116017],"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":[0.0004306746,0.0003500707,0.4125735,0.0001436768,0.0001068854,0.4869784,0.002682339,0.0006278233,0.04797165,0.000902892,0.003487357,0.04374482],"study_design_scores_gemma":[0.00008909271,0.0007590784,0.4363835,0.0001161761,0.0002246339,0.5394423,0.002099422,0.002518513,0.009918781,0.001014748,0.007373955,0.00005967995],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960305,0.0004844508,0.0006458666,0.0005323184,0.00002881366,0.0000521099,0.0005014809,0.00002472671,0.001699655],"genre_scores_gemma":[0.9972944,0.0002205587,0.001256052,0.0003270738,0.00001539765,0.0000133082,0.000216992,0.000005382069,0.0006507731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005320789,"threshold_uncertainty_score":0.01057965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1097734833893156,"score_gpt":0.2926417759694114,"score_spread":0.1828682925800958,"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."}}