{"id":"W4400968040","doi":"10.1093/brain/awae249","title":"Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; NIHR Newcastle Biomedical Research Centre; Spark Therapeutics; Medical Research Council Canada; Academy of Medical Sciences; Fundación Isabel Gemio; National Institute for Health and Care Research","keywords":"Disease; Muscle disease; Transcriptome; Medicine; Biology; Genetics; Pathology; Gene; Gene expression","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001311033,0.0001880503,0.0003041797,0.0002894049,0.0001754183,0.0002757488,0.00008355673,0.0002495509,0.0008893382],"category_scores_gemma":[0.000223801,0.0001082172,0.0002289968,0.0002973237,0.0001218704,0.0001246017,0.0001912046,0.0002201726,0.0002646001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001151695,"about_ca_system_score_gemma":0.00007073033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005691162,"about_ca_topic_score_gemma":0.001062647,"domain_scores_codex":[0.9998945,0.00001247565,0.000007375933,0.0000515396,0.00001637068,0.00001770407],"domain_scores_gemma":[0.9999139,0.00002684992,0.00002369298,0.000007604516,0.00001528786,0.00001265017],"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":[0.001646336,0.00004354137,0.1988779,0.0001686128,0.0001295323,0.0006507248,0.0004190039,0.0007157393,0.7766429,0.00007754512,0.0004818494,0.02014631],"study_design_scores_gemma":[0.00002124192,0.0002954203,0.9673504,0.00002509942,0.000100938,0.00158318,0.000467606,0.001952508,0.02574573,0.0001958106,0.002248969,0.00001312036],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961873,0.0005215833,0.001125844,0.00004306455,0.000006144367,0.000008243018,0.001846295,0.00002448067,0.0002370232],"genre_scores_gemma":[0.9915986,0.0003994252,0.00252934,0.0001079191,0.000009743337,0.00003615255,0.00462232,0.00002047759,0.0006760466],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008893382,"threshold_uncertainty_score":0.002975106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01398940495736298,"score_gpt":0.2997884825505356,"score_spread":0.2857990775931727,"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."}}