{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002522426,0.0001143692,0.0001656064,0.00008485902,0.00006356129,0.00004187764,0.0001056078,0.00007089647,0.00002282176],"category_scores_gemma":[0.0006158532,0.0001085136,0.0000716459,0.00004681445,0.0001003587,0.00002772439,0.00005527141,0.00009597708,0.00000154344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000410608,"about_ca_system_score_gemma":0.0002947775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005219327,"about_ca_topic_score_gemma":0.0004956297,"domain_scores_codex":[0.9989393,0.0001354087,0.000449176,0.000140619,0.0001700609,0.0001653802],"domain_scores_gemma":[0.9991483,0.00005601094,0.0002592903,0.0001576768,0.0002413523,0.000137376],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002675397,0.0002560366,0.9809421,0.00009034573,0.0001173063,0.001236697,0.001647461,0.00007442039,0.01124787,0.00001478264,0.0006970361,0.001000558],"study_design_scores_gemma":[0.00101636,0.0005011449,0.993889,0.0001021781,0.00006252694,0.00003214943,0.001069287,0.0001260176,0.002976696,0.00002686706,0.00008518191,0.0001125951],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990358,0.0004551606,0.00002499036,0.00001474954,0.0001704338,0.0002321743,0.00002477292,0.00000204847,0.00003987493],"genre_scores_gemma":[0.9992002,0.0001384453,0.00003851019,0.00007725399,0.000494784,0.000008442229,0.000004441601,0.00001207428,0.00002589463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0129469,"threshold_uncertainty_score":0.4425058,"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."}}