{"id":"W2164511303","doi":"10.1086/504926","title":"Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease","year":2006,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":181,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi","funders":"","keywords":"Mitochondrial DNA; Biology; Genetics; Mitochondrion; Human mitochondrial genetics; Phenotype; Single-nucleotide polymorphism; Mitochondrial disease; Disease; Missense mutation; Genetic variation; Allele; Hypervariable region; Bioinformatics; Genotype; Gene; Medicine; Internal medicine","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":[0.001758864,0.001260302,0.0008830737,0.002793457,0.001170003,0.000555643,0.0009916297,0.001404711,0.002680167],"category_scores_gemma":[0.004840878,0.0003777807,0.0009529928,0.001898555,0.0006431573,0.0004739336,0.001045854,0.0007718936,0.0002311214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004553621,"about_ca_system_score_gemma":0.0008199606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00724089,"about_ca_topic_score_gemma":0.01026675,"domain_scores_codex":[0.9972814,0.0008494208,0.0003011055,0.000848404,0.0004294433,0.0002902269],"domain_scores_gemma":[0.9967576,0.001745479,0.0005665793,0.0001641949,0.000305049,0.0004611665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003046223,0.0005362682,0.9079065,0.0001022044,0.001066954,0.00936869,0.0006282475,0.001685453,0.05287935,0.0006809821,0.001084239,0.02101476],"study_design_scores_gemma":[0.0002797851,0.001455142,0.96907,0.00003858555,0.001052602,0.01357857,0.0003806431,0.003650588,0.007944091,0.0007933934,0.001709903,0.00004665029],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970186,0.0003891683,0.0009713953,0.0001942585,0.00001999477,0.0000224934,0.0006123018,0.00004200265,0.0007298911],"genre_scores_gemma":[0.9985431,0.00006147903,0.0008313532,0.00005658261,0.00001483879,0.00001166778,0.0002558487,0.000007770354,0.0002174144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00724089,"threshold_uncertainty_score":0.0143975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01436779758205032,"score_gpt":0.2615792901039676,"score_spread":0.2472114925219173,"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."}}