A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data

Mitochondrial diseases are a heterogeneous group of disorders that can be caused by mutations in the nuclear or mitochondrial genome. Mitochondrial DNA (mtDNA) variants may exist in a state of heteroplasmy, where a percentage of DNA molecules harbor a variant, or homoplasmy, where all DNA molecules...

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Detalles Bibliográficos
Autores principales: Battle, Stephanie L, Puiu, Daniela, Verlouw, Joost, Broer, Linda, Boerwinkle, Eric, Taylor, Kent D, Rotter, Jerome I, Rich, Stephan S, Grove, Megan L, Pankratz, Nathan, Fetterman, Jessica L, Liu, Chunyu, Arking, Dan E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Methods Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112767/
https://www.ncbi.nlm.nih.gov/pubmed/35591888
http://dx.doi.org/10.1093/nargab/lqac034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112767/
https://www.ncbi.nlm.nih.gov/pubmed/35591888
http://dx.doi.org/10.1093/nargab/lqac034

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