{"id":"W2563150189","doi":"10.1101/092346","title":"Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families","year":2016,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; Hospital for Sick Children; Fleming College; University of Toronto; Mount Sinai Hospital; Centre for Addiction and Mental Health","funders":"Tehran University of Medical Sciences and Health Services","keywords":"Genetics; Exome sequencing; Disease gene identification; Biology; Candidate gene; Exome; Consanguinity; Copy-number variation; Gene; Missense mutation; Genetic heterogeneity; Mutation; Genome; Phenotype","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":[0.0002582826,0.000461517,0.0003101983,0.001192779,0.0004042186,0.0002755853,0.0002292935,0.0003555286,0.001149981],"category_scores_gemma":[0.001052361,0.0001735205,0.0001958976,0.0008996611,0.0003621439,0.0001206605,0.0003170711,0.0001949992,0.0001306794],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000303488,"about_ca_system_score_gemma":0.0001679412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0042535,"about_ca_topic_score_gemma":0.005400739,"domain_scores_codex":[0.9996897,0.00005328317,0.00002776037,0.0001166403,0.00007359643,0.00003903023],"domain_scores_gemma":[0.9998112,0.00008949258,0.00003680383,0.00001968816,0.00001520405,0.00002756772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008431324,0.000121533,0.7740433,0.0001064431,0.000298645,0.01611664,0.001510214,0.0007727226,0.1599473,0.0002358467,0.0006298264,0.04537442],"study_design_scores_gemma":[0.00004199788,0.0001585151,0.9804853,0.00001144164,0.00009305445,0.01154675,0.0002331271,0.0009397132,0.005202356,0.0001047029,0.001168773,0.00001410552],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992391,0.0001435342,0.0002137028,0.00001529101,0.000001248866,0.000005194947,0.0002297262,0.000006544035,0.0001456483],"genre_scores_gemma":[0.9986407,0.0001001807,0.0007392612,0.00002407892,0.000002237033,0.00001196753,0.0003095104,0.000003582051,0.0001684003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0042535,"threshold_uncertainty_score":0.008457482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0122863597814518,"score_gpt":0.2120305627141593,"score_spread":0.1997442029327075,"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."}}