{"id":"W2803889212","doi":"10.1093/ecco-jcc/jjy068","title":"Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study","year":2018,"lang":"en","type":"article","venue":"Journal of Crohn s and Colitis","topic":"Inflammatory Bowel Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Narodowe Centrum Nauki; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Institut des maladies génétiques Imagine; Rare Disease Foundation","keywords":"Medicine; Sanger sequencing; Exome sequencing; Inflammatory bowel disease; Colitis; DNA sequencing; Genetic testing; Anamnesis; Internal medicine; Inflammatory Bowel Diseases; Bioinformatics; Mutation; Disease; Genetics; Biology; Gene","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":[0.004940153,0.0006283236,0.0007131685,0.001152335,0.0006582299,0.001122308,0.0007166625,0.001176447,0.0009527177],"category_scores_gemma":[0.01159797,0.0004653239,0.0007079982,0.001092508,0.0008385777,0.0005047214,0.001129489,0.0004880439,0.0002264117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006077222,"about_ca_system_score_gemma":0.0005037063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001728112,"about_ca_topic_score_gemma":0.001616915,"domain_scores_codex":[0.9940708,0.003216775,0.0004575228,0.001294901,0.0006043343,0.0003555868],"domain_scores_gemma":[0.9921885,0.0034005,0.002020685,0.001012379,0.0006132462,0.0007647251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009839813,0.0001078007,0.9924165,0.00006954297,0.0001961571,0.0007031916,0.0004185385,0.0001126526,0.00127537,0.0000403153,0.0001354679,0.003540379],"study_design_scores_gemma":[0.00009950595,0.0009175611,0.9950995,0.00002827593,0.0001903261,0.002408766,0.0002434465,0.0003701148,0.0002864835,0.0000297331,0.0003084678,0.00001793155],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991987,0.0002529343,0.0002191803,0.0000194002,0.000004606977,0.00002975681,0.0001400407,0.000003720926,0.0001316592],"genre_scores_gemma":[0.9992545,0.0000748751,0.0003750094,0.00003267085,0.000006972145,0.00002478745,0.0001981088,0.000003565322,0.00002948223],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004940153,"threshold_uncertainty_score":0.02612633,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01710732844657102,"score_gpt":0.2453443638662477,"score_spread":0.2282370354196766,"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."}}