{"id":"W2970053223","doi":"10.1038/s41436-019-0640-9","title":"Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; McGill University Health Centre; McGill University","funders":"Canadian Institutes of Health Research; Compute Canada","keywords":"Methylmalonic acid; Methylmalonic aciduria; Cobalamin; Biology; Genetics; Methylmalonic acidemia; Gene; Copy-number variation; DNA sequencing; RNA; genomic DNA; Somatic cell; Molecular biology; Genome; Vitamin B12; Biochemistry; Endocrinology","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":[0.0002305676,0.0006190815,0.0004747165,0.001487663,0.001065569,0.0008133778,0.0004001231,0.001507474,0.001979673],"category_scores_gemma":[0.002153325,0.0002667298,0.000367879,0.0008595155,0.0004266678,0.0003013291,0.0003647497,0.0006156531,0.0002858396],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003871135,"about_ca_system_score_gemma":0.0003209188,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003685327,"about_ca_topic_score_gemma":0.002932461,"domain_scores_codex":[0.9995267,0.00005925874,0.00005173206,0.0001454932,0.0001119361,0.0001049713],"domain_scores_gemma":[0.9992346,0.0003534046,0.0001265881,0.00003678261,0.00009698942,0.0001516771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002043242,0.0002142185,0.6767095,0.0001174976,0.0001454461,0.2350391,0.002093537,0.0007383688,0.06345303,0.0005372362,0.00175952,0.01714927],"study_design_scores_gemma":[0.00008069646,0.0005600326,0.722454,0.00006384857,0.000295646,0.2545934,0.001693028,0.002886983,0.01250013,0.0007831448,0.004033665,0.00005538628],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965363,0.0004246459,0.0003780944,0.0004315166,0.00002918291,0.00001406817,0.0005589991,0.00002838267,0.001598903],"genre_scores_gemma":[0.9986457,0.0001261498,0.0003156869,0.0002518484,0.00003361525,0.000006350057,0.0002721723,0.00001541254,0.0003330584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003685327,"threshold_uncertainty_score":0.007327735,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007256702250488621,"score_gpt":0.2345746914011303,"score_spread":0.2273179891506417,"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."}}