{"id":"W4409099078","doi":"10.1056/nejmoa2405333","title":"The Genetic Architecture of Congenital Diarrhea and Enteropathy","year":2025,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Celiac Disease Research and Management","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; Princess Margaret Cancer Centre; Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; Canada Research Chairs; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Diarrhea; Enteropathy; Genetic architecture; Medicine; Biology; Genetics; Internal medicine; Disease; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0003285686,0.0005130226,0.0002316054,0.002055055,0.0003785058,0.0005244254,0.0003150219,0.0004536166,0.002125301],"category_scores_gemma":[0.001019184,0.0001791279,0.00028696,0.001484097,0.0009299057,0.0002416658,0.0008247741,0.0005335214,0.0001330724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004432977,"about_ca_system_score_gemma":0.0005135392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002349039,"about_ca_topic_score_gemma":0.004086432,"domain_scores_codex":[0.9995944,0.00006044873,0.00004836885,0.0001463205,0.00009220715,0.00005823696],"domain_scores_gemma":[0.9992711,0.0002292044,0.00031863,0.00003682958,0.00006082366,0.00008335346],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001014586,0.0000898738,0.6595073,0.000511745,0.0006110485,0.03632377,0.0006304159,0.003204033,0.2439391,0.00398413,0.001632234,0.04855178],"study_design_scores_gemma":[0.00004703638,0.0001609104,0.9098802,0.0001477619,0.0004638944,0.06290291,0.0004050451,0.001667678,0.01663049,0.003230313,0.004429946,0.00003371662],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921243,0.002196752,0.002157319,0.0004252985,0.00001235648,0.0000243989,0.001079805,0.00004248228,0.00193744],"genre_scores_gemma":[0.9953987,0.00101409,0.002606963,0.0001125902,0.00002021561,0.00001121333,0.0005984318,0.00001345187,0.0002243619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002349039,"threshold_uncertainty_score":0.007109821,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006811157254083415,"score_gpt":0.2740897206510693,"score_spread":0.2672785633969859,"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."}}