{"id":"W4409147577","doi":"10.1002/ajmg.a.64053","title":"Gut Microbiome Pilot Study of Patients With <scp>CHARGE</scp> Syndrome and Sibling Controls","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"CHARGE Syndrome Foundation; IWK Health Centre","keywords":"Bacteroidetes; Firmicutes; CHARGE syndrome; Microbiome; Proteobacteria; Sibling; Biology; Internal medicine; Gastroenterology; Medicine; Genetics; Gene; 16S ribosomal RNA; Psychology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002759747,0.0004502504,0.0004412752,0.0008707859,0.00123091,0.0004496246,0.0002072626,0.0003957,0.002732232],"category_scores_gemma":[0.001224838,0.0002091436,0.0003515139,0.000540967,0.0003655306,0.0002626965,0.0006510259,0.0003131181,0.0002411854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005799314,"about_ca_system_score_gemma":0.0004048366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02146365,"about_ca_topic_score_gemma":0.01389758,"domain_scores_codex":[0.999703,0.00003891174,0.00003174636,0.000100152,0.0000712489,0.00005492153],"domain_scores_gemma":[0.9995508,0.00005301409,0.00007076798,0.0000275109,0.0001260315,0.0001718305],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008126753,0.0002748762,0.9834067,0.00003532264,0.00006306376,0.002800195,0.001231124,0.00003053405,0.007708967,0.00004782495,0.0002061068,0.003382576],"study_design_scores_gemma":[0.00003464871,0.0009539088,0.9931157,0.000008138495,0.00003466081,0.003729931,0.001243275,0.0001013364,0.0003652067,0.00002388253,0.0003828716,0.000006477378],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996741,0.00003192798,0.00003379917,0.000007806773,0.000002608983,0.0000132091,0.00009394542,0.000001153106,0.0001414319],"genre_scores_gemma":[0.9994074,0.00002867971,0.00009835038,0.00002188099,0.000004179351,0.00001190172,0.0002172122,0.000001778022,0.0002086429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02146365,"threshold_uncertainty_score":0.04267746,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01048186367788624,"score_gpt":0.2616704207030622,"score_spread":0.251188557025176,"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."}}