118856 20240319081020.0 doi 10.1186/s13023-022-02428-0 sideral 129787 ART-2022-129787 eng Bayona-Bafaluy, M. Pilar Universidad de Zaragoza (orcid)0000-0002-8585-6371 Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants? 2022 Access copy available to the general public Unrestricted Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy individuals, it has been observed that a very large number of genetic variants have a very low population frequency, which has raised doubts about the utility of this criterion. By analyzing the genetic variation of mitochondrial DNA-encoded genes for oxidative phosphorylation subunits in 195,983 individuals from HelixMTdb that were not sequenced based on any medical phenotype, we show that rare variants are deleterious and, along with other criteria, population frequency is still a useful criterion to assign pathogenicity to newly described variants. info:eu-repo/grantAgreement/ES/DGA/B33-20R info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229 info:eu-repo/grantAgreement/ES/MICINN/PID2019-116970GA-I00 info:eu-repo/grantAgreement/ES/MICINN/RYC2020-029544-I info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 3.7 2022 GENETICS & HEREDITY 60 / 171 = 0.351 2022 Q2 T2 MEDICINE, RESEARCH & EXPERIMENTAL 75 / 136 = 0.551 2022 Q3 T2 1.12 2022 Medicine (miscellaneous) 2022 Q1 Pharmacology (medical) 2022 Q1 Genetics (clinical) 2022 Q2 5.8 2022 info:eu-repo/semantics/other info:eu-repo/semantics/publishedVersion López-Gallardo, Ester Universidad de Zaragoza (orcid)0000-0002-3217-1424 Emperador, Sonia Universidad de Zaragoza (orcid)0000-0001-5964-6138 Pacheu-Grau, David Universidad de Zaragoza (orcid)0000-0003-2645-3983 Montoya, Julio Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, Eduardo Universidad de Zaragoza (orcid)0000-0002-0269-7337 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 17 (2022), 316 [4 pp.] Orphanet j. rare dis. Orphanet Journal of Rare Diseases 1750-1172 809808 http://zaguan.unizar.es/record/118856/files/texto_completo.pdf Versión publicada 2647339 http://zaguan.unizar.es/record/118856/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:118856 articulos driver 2024-03-18-16:05:06 ARTICLE