{"id":"W2113825684","doi":"10.1086/375537","title":"Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy","year":2003,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"University of Waterloo; University of British Columbia; Universiteit van Amsterdam; Ophthalmic Research Institute of Australia","keywords":"Haplogroup; Pedigree chart; Genetics; Mitochondrial DNA; Biology; Haplotype; Leber's hereditary optic neuropathy; Founder effect; Sequence (biology); Mutation; Lineage (genetic); Phylogenetic tree; Gene; Genotype","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":[0.0002119227,0.0004081295,0.0002613019,0.001230681,0.0004722076,0.0003809015,0.0002287218,0.0004527278,0.001269981],"category_scores_gemma":[0.00120649,0.0001711874,0.0003064011,0.001166258,0.0002110343,0.0001071722,0.0002196949,0.0003378052,0.000263606],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003847585,"about_ca_system_score_gemma":0.0002622063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01045222,"about_ca_topic_score_gemma":0.01219436,"domain_scores_codex":[0.9998125,0.00003565702,0.00002936767,0.00004294512,0.00004879504,0.00003079526],"domain_scores_gemma":[0.9993004,0.0002968425,0.0001468139,0.00002892132,0.000106663,0.000120486],"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":[0.004530179,0.0003194716,0.2082494,0.000651843,0.0006504312,0.03290161,0.004824584,0.002663037,0.7022803,0.0008760442,0.002324251,0.03972881],"study_design_scores_gemma":[0.0001761795,0.000363303,0.9235775,0.0001155631,0.0005741044,0.02794696,0.001435421,0.002672612,0.03062514,0.0004702448,0.01197827,0.00006460547],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966635,0.0002518951,0.0004965413,0.00005891394,0.000009169324,0.00001233641,0.002035121,0.000007073331,0.0004654451],"genre_scores_gemma":[0.991055,0.0004575355,0.001353127,0.0000704796,0.00001415164,0.00002027524,0.006028607,0.00001731067,0.0009836419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01045222,"threshold_uncertainty_score":0.02078277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0144544568955366,"score_gpt":0.2504399525086892,"score_spread":0.2359854956131526,"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."}}