{"id":"W2134905460","doi":"10.1186/1471-2164-15-s3-s2","title":"Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data","year":2014,"lang":"en","type":"article","venue":"BMC Genomics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"Ministero dell’Istruzione, dell’Università e della Ricerca","keywords":"Biology; Mitochondrial DNA; Heteroplasmy; Exome sequencing; Genome; Computational biology; 1000 Genomes Project; Exome; Genetics; Indel; DNA sequencing; Genome project; Population; Genomics; Human genome; Gene; Mutation; Genotype","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":[0.001569241,0.001533337,0.001639137,0.00710377,0.0009995416,0.001591539,0.0009497395,0.001290035,0.00482029],"category_scores_gemma":[0.006777746,0.0006616322,0.00192453,0.006331906,0.0002933821,0.0009034618,0.002049714,0.001620166,0.004455521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005295824,"about_ca_system_score_gemma":0.001860027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003836041,"about_ca_topic_score_gemma":0.005617724,"domain_scores_codex":[0.9982741,0.0002768296,0.0002843031,0.0006990598,0.0003300107,0.0001357201],"domain_scores_gemma":[0.998731,0.000448455,0.0002151036,0.0002045254,0.0003002599,0.0001006745],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002933633,0.0004201684,0.08319533,0.02053693,0.002859518,0.005840813,0.003240274,0.02138249,0.2835329,0.008569769,0.1351819,0.4323064],"study_design_scores_gemma":[0.0006256422,0.0005851509,0.3079737,0.00240462,0.00184964,0.005000922,0.001440782,0.06511513,0.07785158,0.0228616,0.5138279,0.0004632643],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.1193121,0.006615205,0.1404907,0.0006147085,0.0002652221,0.0008739486,0.7198789,0.008538375,0.003410803],"genre_scores_gemma":[0.0659065,0.002333971,0.197625,0.0002587796,0.00007608948,0.001283205,0.7294191,0.001155629,0.001941699],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00710377,"threshold_uncertainty_score":0.01612544,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03949101340753004,"score_gpt":0.2795686074056244,"score_spread":0.2400775939980944,"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."}}