000118856 001__ 118856
000118856 005__ 20240319081020.0
000118856 0247_ $$2doi$$a10.1186/s13023-022-02428-0
000118856 0248_ $$2sideral$$a129787
000118856 037__ $$aART-2022-129787
000118856 041__ $$aeng
000118856 100__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M. Pilar$$uUniversidad de Zaragoza
000118856 245__ $$aIs population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?
000118856 260__ $$c2022
000118856 5060_ $$aAccess copy available to the general public$$fUnrestricted
000118856 5203_ $$aPopulation 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.
000118856 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229$$9info:eu-repo/grantAgreement/ES/MICINN/PID2019-116970GA-I00$$9info:eu-repo/grantAgreement/ES/MICINN/RYC2020-029544-I
000118856 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000118856 590__ $$a3.7$$b2022
000118856 592__ $$a1.12$$b2022
000118856 591__ $$aGENETICS & HEREDITY$$b60 / 171 = 0.351$$c2022$$dQ2$$eT2
000118856 593__ $$aMedicine (miscellaneous)$$c2022$$dQ1
000118856 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b75 / 136 = 0.551$$c2022$$dQ3$$eT2
000118856 593__ $$aPharmacology (medical)$$c2022$$dQ1
000118856 593__ $$aGenetics (clinical)$$c2022$$dQ2
000118856 594__ $$a5.8$$b2022
000118856 655_4 $$ainfo:eu-repo/semantics/other$$vinfo:eu-repo/semantics/publishedVersion
000118856 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000118856 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000118856 700__ $$0(orcid)0000-0003-2645-3983$$aPacheu-Grau, David$$uUniversidad de Zaragoza
000118856 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000118856 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000118856 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000118856 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000118856 773__ $$g17 (2022), 316 [4 pp.]$$pOrphanet j. rare dis.$$tOrphanet Journal of Rare Diseases$$x1750-1172
000118856 8564_ $$s809808$$uhttps://zaguan.unizar.es/record/118856/files/texto_completo.pdf$$yVersión publicada
000118856 8564_ $$s2647339$$uhttps://zaguan.unizar.es/record/118856/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000118856 909CO $$ooai:zaguan.unizar.es:118856$$particulos$$pdriver
000118856 951__ $$a2024-03-18-16:05:06
000118856 980__ $$aARTICLE