{"id":"W4413221301","doi":"10.1101/2025.08.05.25332527","title":"Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Asthma and respiratory diseases","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Children's Hospital Research Institute of Manitoba; Alberta Children's Hospital; BC Children's Hospital; University of British Columbia","funders":"","keywords":"STAT5; Biology; Phenotype; Proband; Signal transduction; Immunology; Receptor; Loss function; Germline; Cancer research; Genetics; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001243216,0.0005022795,0.0002165674,0.0002186493,0.0001904658,0.0002413586,0.0001356024,0.0004439574,0.00204427],"category_scores_gemma":[0.0001719425,0.0001373222,0.0001937044,0.0001587638,0.0002514566,0.00008348115,0.0002930393,0.0004426594,0.0008050405],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001230165,"about_ca_system_score_gemma":0.00008179787,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003132522,"about_ca_topic_score_gemma":0.0003291207,"domain_scores_codex":[0.9998791,0.00001908137,0.0000162596,0.00003163764,0.0000317301,0.00002221638],"domain_scores_gemma":[0.9999086,0.00002030314,0.00003108453,0.000009602833,0.000005295521,0.00002518755],"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":[0.0004458318,0.00008500196,0.01130062,0.00007394873,0.0000542791,0.01058309,0.0001084043,0.000233518,0.9680784,0.0003512632,0.002184979,0.006500616],"study_design_scores_gemma":[0.0003127072,0.001198946,0.289215,0.00007161483,0.0002681082,0.1939751,0.000474933,0.004204919,0.4796169,0.001385073,0.02921624,0.00006053357],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935843,0.0006134666,0.002081654,0.0003557648,0.0000513943,0.00002544168,0.001237411,0.0001853878,0.001865198],"genre_scores_gemma":[0.9955591,0.0002894801,0.00126999,0.0001970209,0.00003669487,0.000009895779,0.001121051,0.00005215428,0.001464582],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00204427,"threshold_uncertainty_score":0.006838739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02902369083075073,"score_gpt":0.3037262598253789,"score_spread":0.2747025689946282,"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."}}