{"id":"W4205461726","doi":"10.1164/rccm.202106-1456oc","title":"Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of <i>MUC5B</i>","year":2022,"lang":"en","type":"article","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Work & Health; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children; University of British Columbia; St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Hospital for Sick Children; National Institutes of Health; Rare Diseases Clinical Research Network; Sick Kids Foundation; American Thoracic Society; University of Toronto; Cystic Fibrosis Foundation; McLaughlin Centre, University of Toronto","keywords":"Mucociliary clearance; Proband; Mucin; Phenotype; Exome sequencing; Lung; Mucus; Airway","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":[0.0001456426,0.0009544084,0.0003455105,0.0005208518,0.0003905017,0.0002246504,0.0002410436,0.0003948642,0.002581069],"category_scores_gemma":[0.0003841663,0.0001440897,0.0002806998,0.0004042512,0.0005407061,0.0001487017,0.0003763484,0.0003664336,0.0002617163],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002152201,"about_ca_system_score_gemma":0.0002279566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002205476,"about_ca_topic_score_gemma":0.001633296,"domain_scores_codex":[0.9997774,0.00003451186,0.00003053058,0.0000778204,0.0000456388,0.00003409332],"domain_scores_gemma":[0.9997988,0.00004069658,0.00007412441,0.00001073251,0.00001690043,0.00005873854],"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":[0.001022553,0.0000973966,0.08611924,0.0003460598,0.0001950887,0.09053009,0.0004243462,0.0004107238,0.804053,0.0008949275,0.001133364,0.01477324],"study_design_scores_gemma":[0.0001137444,0.0008228609,0.446748,0.0001776852,0.0004886177,0.3736949,0.0005994504,0.002923676,0.1626413,0.0005389169,0.01119839,0.00005248097],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951793,0.001020288,0.001875489,0.0001441669,0.0000259929,0.0000169873,0.000530435,0.00009488063,0.001112596],"genre_scores_gemma":[0.9982856,0.0001880088,0.0009536173,0.00004325543,0.00001485396,0.00000555035,0.0001798386,0.00001708143,0.000312248],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002581069,"threshold_uncertainty_score":0.008634508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01338152755466312,"score_gpt":0.2953924076878736,"score_spread":0.2820108801332105,"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."}}