{"id":"W2887379791","doi":"10.1016/j.mito.2018.08.002","title":"A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations","year":2018,"lang":"en","type":"article","venue":"Mitochondrion","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Vancouver General Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Heteroplasmy; Mitochondrial DNA; Biology; Genetics; Non-Mendelian inheritance; Muscle biopsy; Inheritance (genetic algorithm); D-loop; Biopsy; Gene; Medicine; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001133036,0.0003138469,0.0002574223,0.00009111993,0.0003242421,0.00009089893,0.0002782975,0.0003424732,0.00008582645],"category_scores_gemma":[0.0001263454,0.0002915557,0.00007264742,0.0003435921,0.0002077398,0.00002735035,0.0001375161,0.0002085405,0.0001173666],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005192661,"about_ca_system_score_gemma":0.0000871642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002117669,"about_ca_topic_score_gemma":0.01280903,"domain_scores_codex":[0.9979051,0.0001022157,0.00044565,0.0008171541,0.0002207193,0.0005091187],"domain_scores_gemma":[0.9987587,0.0000155296,0.0001974143,0.0006211376,0.0002846619,0.0001226033],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008323044,0.00007042803,0.01191173,0.00001027825,0.00002280477,0.00001459998,0.0002983337,0.00005548861,0.9831948,0.00001530382,0.00106464,0.002509236],"study_design_scores_gemma":[0.00294383,0.001569962,0.05501833,0.00009897282,0.00002159533,0.0001821655,0.000127039,0.000741477,0.9240025,0.0000606201,0.01465318,0.0005802872],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9557778,0.000120218,0.0415831,0.0001703406,0.001194109,0.0006509153,0.00003179671,0.0000505807,0.0004211787],"genre_scores_gemma":[0.97914,0.00003442047,0.0153855,0.0003290651,0.002849476,0.0002922387,0.0002216451,0.00007015958,0.001677491],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05919231,"threshold_uncertainty_score":0.9999537,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0136853707909135,"score_gpt":0.269938634355925,"score_spread":0.2562532635650115,"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."}}