{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001366729,0.0002912644,0.00024871,0.00007964717,0.000322255,0.0001668615,0.0003812358,0.0001367268,0.00001040451],"category_scores_gemma":[0.0001638411,0.0003089591,0.00008571118,0.00007495195,0.0004450477,0.000009666143,0.0003660904,0.0001466524,0.000004695636],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002771211,"about_ca_system_score_gemma":0.0001530385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002576463,"about_ca_topic_score_gemma":0.001350544,"domain_scores_codex":[0.9984323,0.00005439737,0.0003383749,0.0006609004,0.0001412751,0.0003727673],"domain_scores_gemma":[0.9990724,0.00001304634,0.0001525043,0.0006210253,0.000044514,0.00009646274],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007277668,0.00008080692,0.05559071,0.00007243428,0.00006565167,0.00001721511,0.000401597,0.00003088553,0.9419866,0.00002722179,0.0001699221,0.001484149],"study_design_scores_gemma":[0.005106485,0.0005336989,0.4445249,0.0002841407,0.00005985464,0.0002335064,0.005133473,0.0004130273,0.5369451,0.001018808,0.004031307,0.001715693],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944522,0.002932919,0.0005558035,0.0006337522,0.0006889569,0.0002829705,0.00002546497,0.00002099172,0.0004069135],"genre_scores_gemma":[0.9967888,0.0006245985,0.001909817,0.000396729,0.00003226899,0.00003044739,0.00005172358,0.0000500932,0.0001155072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4050415,"threshold_uncertainty_score":0.9999362,"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."}}