{"id":"W2586519241","doi":"10.1002/humu.23196","title":"Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i>) gene","year":2017,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital Research Institute of Manitoba; University of Manitoba; Children's Hospital of Winnipeg; McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics Institute; Children's Mercy Hospital; Genome Canada","keywords":"Biology; Genetics; Gene; Mutation; Microcephaly; Mitochondrial DNA; Phenotype; Disease; Mitochondrial disease; Transfer RNA; Identification (biology); RNA","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":[0.0005671146,0.0003862749,0.0003550067,0.001227254,0.0007155672,0.0004423045,0.0003553909,0.0006247852,0.003482175],"category_scores_gemma":[0.0016447,0.0001519987,0.0002055416,0.0004337214,0.0004656168,0.0005246021,0.0007256347,0.0005057358,0.000674998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001896362,"about_ca_system_score_gemma":0.0001380019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004400172,"about_ca_topic_score_gemma":0.0008080952,"domain_scores_codex":[0.999485,0.0001201466,0.00005100683,0.000148287,0.0001245431,0.00007101502],"domain_scores_gemma":[0.9995762,0.0001834006,0.0001000514,0.00006158849,0.00002492131,0.00005381406],"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":[0.001858564,0.0004017591,0.3498096,0.0001543298,0.0001082762,0.06748916,0.001324453,0.0007462958,0.4138451,0.002353166,0.00305063,0.1588587],"study_design_scores_gemma":[0.00005306967,0.0009951262,0.2579422,0.00004295615,0.0001547529,0.324327,0.0007604714,0.006482778,0.3935899,0.002736807,0.01285344,0.00006153854],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991127,0.0004212367,0.005374221,0.0002979022,0.00003795851,0.00003932824,0.0001430065,0.000165703,0.002393717],"genre_scores_gemma":[0.9921907,0.0002343196,0.006204388,0.0001004649,0.00002244433,0.000009432629,0.0001384297,0.00002361014,0.00107619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003482175,"threshold_uncertainty_score":0.01164901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02140697440144074,"score_gpt":0.2922576381971481,"score_spread":0.2708506637957073,"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."}}