{"id":"W3095577566","doi":"10.1371/journal.pgen.1009106","title":"A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease","year":2020,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Congenital gastrointestinal and neural anomalies","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Common Fund; National Cancer Institute; NIH Office of the Director; National Human Genome Research Institute; York University; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; National Institute of Neurological Disorders and Stroke; School of Medicine, New York University; Rijksuniversiteit Groningen; National Institutes of Health; Studienstiftung des Deutschen Volkes; Medizinischen Fakultät Heidelberg, Universität Heidelberg; Deutsches Krebsforschungszentrum","keywords":"Biology; Candidate gene; Transcriptome; In silico; Phenotype; Enteric nervous system; Gene; Exome sequencing; Neural crest; Genetics; Disease; Zebrafish; Bioinformatics; Computational biology; Gene expression; Pathology; Neuroscience; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004775895,0.0005702358,0.0006574212,0.001133009,0.0003862674,0.001221219,0.0003664287,0.0005493543,0.00281659],"category_scores_gemma":[0.0005112867,0.0001565931,0.0006284781,0.0008652972,0.0002508467,0.0008196106,0.0006741249,0.000530772,0.0005863361],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002799309,"about_ca_system_score_gemma":0.0005332436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00036039,"about_ca_topic_score_gemma":0.0009102793,"domain_scores_codex":[0.9997723,0.00003396749,0.00002054276,0.0001069925,0.00003810365,0.00002813698],"domain_scores_gemma":[0.9996861,0.0001160928,0.00005273046,0.00004770588,0.00004846638,0.00004888001],"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":[0.0006129707,0.0001331192,0.01801798,0.00121808,0.0003069623,0.002823827,0.0004411651,0.00117575,0.8768005,0.004529128,0.001334773,0.09260584],"study_design_scores_gemma":[0.0002167599,0.001405254,0.2189134,0.0009031543,0.00214496,0.02209737,0.002285152,0.02256827,0.4522418,0.02677416,0.2502517,0.0001979707],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9087933,0.01517842,0.05592786,0.002586855,0.0002822497,0.0001233231,0.009167433,0.0005023911,0.007438223],"genre_scores_gemma":[0.8631085,0.01515724,0.1009122,0.001473144,0.0003266483,0.0001888859,0.01356894,0.0002005888,0.005063768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00281659,"threshold_uncertainty_score":0.009422421,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1248826449368636,"score_gpt":0.2828450710593959,"score_spread":0.1579624261225324,"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."}}