{"id":"W4405054422","doi":"10.1182/blood-2024-209506","title":"Decoding Transcriptomic Landscape and Molecular Pathways in DNAJC21 Deficiency","year":2024,"lang":"en","type":"article","venue":"Blood","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Transcriptome; Biology; Computational biology; Genetics; Gene; Gene expression","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":[0.0002022173,0.0002882253,0.0003198875,0.0007849928,0.0002808697,0.0005049707,0.0001766244,0.0003179138,0.001947012],"category_scores_gemma":[0.0004090345,0.0001548965,0.0004080209,0.0008033197,0.0002300235,0.0002671482,0.0002978664,0.0004094876,0.0004948791],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002781171,"about_ca_system_score_gemma":0.0002612959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004615352,"about_ca_topic_score_gemma":0.001016361,"domain_scores_codex":[0.999821,0.00001625216,0.00001425627,0.00007279514,0.0000423459,0.00003331425],"domain_scores_gemma":[0.999743,0.00007115017,0.00006663064,0.00002468296,0.00005953074,0.00003489437],"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":[0.0005936922,0.0000275914,0.03045967,0.0005119866,0.00008706532,0.0004076138,0.0001433589,0.0006143288,0.9518039,0.0002587436,0.0008996551,0.01419246],"study_design_scores_gemma":[0.00007890804,0.000493306,0.5122994,0.0001583382,0.0005195192,0.003787158,0.0006457295,0.01193853,0.4370871,0.002443397,0.03049171,0.0000568773],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9639058,0.00622077,0.01214064,0.0003865287,0.00007671203,0.0000613938,0.01500358,0.0002749179,0.001929577],"genre_scores_gemma":[0.9588947,0.003315118,0.01538867,0.0003764881,0.00006818385,0.0001928635,0.01892244,0.0001689858,0.002672661],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001947012,"threshold_uncertainty_score":0.006513417,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007205983887128249,"score_gpt":0.2128289091002376,"score_spread":0.2056229252131093,"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."}}