{"id":"W2167037478","doi":"10.1016/s1474-4422(13)70265-5","title":"The genetic basis of DOORS syndrome: an exome-sequencing study","year":2013,"lang":"en","type":"article","venue":"The Lancet Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":227,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Wellcome Trust; National Human Genome Research Institute; National Institute for Health and Care Research; National Institute of General Medical Sciences; National Institute of Mental Health; Intellectual and Developmental Disabilities Research Center; Action Medical Research; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University College London Hospitals NHS Foundation Trust; National Institute of Child Health and Human Development; Canadian Institutes of Health Research","keywords":"Sanger sequencing; Exome sequencing; Genetics; Exome; Medicine; DNA sequencing; Exon; Intellectual disability; Biology; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0005359928,0.0005856516,0.0004953284,0.001286482,0.00049172,0.0004244158,0.0003971872,0.0006837001,0.002713866],"category_scores_gemma":[0.00128742,0.0002039754,0.0003690867,0.0008844188,0.0003297841,0.0002374047,0.0006418194,0.0003606952,0.0003402718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002194678,"about_ca_system_score_gemma":0.0002908857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009736468,"about_ca_topic_score_gemma":0.001487889,"domain_scores_codex":[0.9995344,0.00008014405,0.0000659535,0.0001651748,0.00009551467,0.00005874434],"domain_scores_gemma":[0.9993086,0.0002917015,0.000148654,0.00005282644,0.00007224762,0.0001260004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002047944,0.0005808608,0.5550191,0.0005815859,0.0007192408,0.2331845,0.003043029,0.001237299,0.1630746,0.0008118385,0.001839312,0.03786073],"study_design_scores_gemma":[0.0003299847,0.001189823,0.7135502,0.0002420222,0.00062512,0.2511714,0.001523323,0.002382714,0.02026545,0.0006202269,0.008028641,0.00007110603],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998217,0.0003150345,0.000476152,0.00005121951,0.000005230177,0.00003073817,0.0005318553,0.000008865865,0.0003637312],"genre_scores_gemma":[0.996977,0.0003698725,0.00137466,0.0001021855,0.00001255632,0.00002510628,0.000872043,0.00001215933,0.0002544239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002713866,"threshold_uncertainty_score":0.009078741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01648942293955836,"score_gpt":0.2414868337787193,"score_spread":0.224997410839161,"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."}}