{"id":"W4403137079","doi":"10.1016/j.nmd.2024.07.411","title":"10INV Clinical and diagnostic utility of RNA/transcriptome: an overview of the role of RNA in disease gene discovery and diagnostics","year":2024,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Molecular Biology Techniques and Applications","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Transcriptome; Disease; Computational biology; RNA; RNA-Seq; Gene; Biology; Gene expression; Genetics; Medicine; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002148872,0.0001331837,0.0002131919,0.00003586325,0.00002416037,0.000009041124,0.0001876904,0.0001154135,0.0000032317],"category_scores_gemma":[0.0003257477,0.0001056385,0.000157773,0.0001403212,0.0005217125,0.000008021105,0.0001463399,0.0001194693,7.742864e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001388247,"about_ca_system_score_gemma":0.00006001189,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006500639,"about_ca_topic_score_gemma":0.00008118041,"domain_scores_codex":[0.9988397,0.0001904721,0.00037234,0.0003745442,0.00009899242,0.0001239288],"domain_scores_gemma":[0.9992345,0.00009672399,0.00007568025,0.0004976895,0.00002741705,0.00006799542],"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":[0.0000778332,0.0006421802,0.4703671,0.0005642205,0.00009957701,0.000004443872,0.00008392263,0.00002003284,0.4960424,0.003086565,0.00006593797,0.02894572],"study_design_scores_gemma":[0.0004340898,0.0003296376,0.9188427,0.0001489313,0.0001770159,0.000002953119,0.000046001,0.0006140912,0.0669357,0.005901593,0.006365495,0.0002018045],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9592279,0.03939979,0.000577386,0.0001864514,0.0000476747,0.0003669731,0.0001459548,0.00000656764,0.00004136256],"genre_scores_gemma":[0.9565438,0.04314883,0.0001166684,0.00007876216,0.00001426829,0.00003424433,0.00004296326,0.00001664683,0.0000038096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4484755,"threshold_uncertainty_score":0.4307812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01789461976723204,"score_gpt":0.3100336113490591,"score_spread":0.292138991581827,"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."}}