{"id":"W2951249912","doi":"10.1038/mp.2017.60","title":"Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families","year":2017,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":183,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen's University; Hospital for Sick Children; Fleming College; University of Toronto; Mount Sinai Hospital; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Peterborough K. M. Hunter Charitable Foundation","keywords":"Genetics; Exome sequencing; Biology; Disease gene identification; Exome; Candidate gene; Copy-number variation; Gene; Missense mutation; Consanguinity; Mutation; Genome","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003047513,0.0005804161,0.0005029601,0.001663817,0.000898389,0.0003662195,0.0003903543,0.0004323072,0.002693763],"category_scores_gemma":[0.00134873,0.0002932176,0.0002636774,0.001299668,0.0006075638,0.0001865366,0.0004040227,0.0002778168,0.0002174478],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002793199,"about_ca_system_score_gemma":0.0002408637,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007919106,"about_ca_topic_score_gemma":0.008771257,"domain_scores_codex":[0.999633,0.00006422334,0.00003346863,0.0001205109,0.00008400461,0.00006477997],"domain_scores_gemma":[0.9996288,0.0002057344,0.00005228289,0.00002933845,0.00002912599,0.00005469234],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001335894,0.000221377,0.8339636,0.0001001615,0.0003262615,0.02946806,0.003524891,0.0004387618,0.1103305,0.0003328235,0.000480327,0.01947742],"study_design_scores_gemma":[0.00005774355,0.0002171263,0.9793234,0.00001365289,0.0001973857,0.01360915,0.0006339802,0.0003999903,0.004334425,0.000146322,0.001046785,0.00002011052],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992692,0.0001031483,0.0001937897,0.00001233529,0.00000147553,0.00000464152,0.0001620573,0.000003937179,0.0002495568],"genre_scores_gemma":[0.9990884,0.00007914986,0.0002651319,0.00001767385,0.000002235274,0.0000110233,0.0001864413,0.000005199477,0.0003447176],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007919106,"threshold_uncertainty_score":0.015746,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01081702497517757,"score_gpt":0.2393449422424489,"score_spread":0.2285279172672713,"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."}}