{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001746542,0.0001053171,0.0001593397,0.00001554114,0.000142154,0.00002237995,0.0005328254,0.00005532364,0.00002388297],"category_scores_gemma":[0.00004567136,0.00005920301,0.00005152767,0.00005375054,0.0001512201,0.000002158789,0.0001498552,0.0000914986,0.00001637858],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002533705,"about_ca_system_score_gemma":0.00003887528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001333245,"about_ca_topic_score_gemma":0.0001036709,"domain_scores_codex":[0.999035,0.0002333736,0.0001717477,0.0002260785,0.00007328399,0.0002604977],"domain_scores_gemma":[0.9990548,0.00003995133,0.00008393427,0.000721706,0.00005165387,0.00004791149],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008918761,0.0007593314,0.3414409,0.0000543698,0.0006417265,0.0002392306,0.001150107,0.002536299,0.6235741,0.0005108846,0.009106432,0.01909477],"study_design_scores_gemma":[0.0008374641,0.002839959,0.9837276,0.000001909186,0.0000637077,0.0003321803,0.0005230884,0.000270006,0.004370841,0.00100839,0.005817431,0.0002074452],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978126,0.0005126374,0.00001169318,0.00098446,0.0001581753,0.0003271609,0.000008092861,0.000007927536,0.0001772795],"genre_scores_gemma":[0.9984673,0.0001925395,0.00002978793,0.0009983242,0.0001602235,0.00005608927,0.000006521128,0.00001623314,0.00007298199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6422867,"threshold_uncertainty_score":0.2414229,"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."}}