Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

Inter-individual variation in the number of copies of the mitochondrial genome, called mitochondrial DNA copy number (mtDNA-CN), reflects mitochondrial function and has been associated with various aging-related diseases. We examined 415,422 exomes of self-reported White ancestry individuals from th...

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Veröffentlicht in:	HGG advances Jg. 4; H. 1; S. 100147
Hauptverfasser:	Pillalamarri, Vamsee, Shi, Wen, Say, Conrad, Yang, Stephanie, Lane, John, Guallar, Eliseo, Pankratz, Nathan, Arking, Dan E.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Elsevier Inc 12.01.2023 Elsevier
Schlagworte:	Child DNA Copy Number Variations - genetics DNA, Mitochondrial - genetics Exodeoxyribonucleases - genetics Exome - genetics Exome Sequencing Genetics Humans Mendelian mtDNA depletion syndrome Mitochondria Mitochondria - genetics mtDNA copy number rare haplotype sharing rare variants SAM Domain and HD Domain-Containing Protein 1 - genetics Syndrome rare variants Mitochondria exome sequencing rare haplotype sharing Mendelian mtDNA depletion syndrome mtDNA copy number
ISSN:	2666-2477, 2666-2477
Online-Zugang:	Volltext
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