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Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application

Mitochondrial DNA (mtDNA) mutations contribute to human disease across a range of severity, from rare, highly penetrant mutations causal for monogenic disorders to mutations with milder contributions to phenotypes. mtDNA variation can exist in all copies of mtDNA or in a percentage of mtDNA copies a...

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Detalles Bibliográficos
Autores principales:	Ip, Eddie K. K., Troup, Michael, Xu, Colin, Winlaw, David S., Dunwoodie, Sally L., Giannoulatou, Eleni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957813/ https://www.ncbi.nlm.nih.gov/pubmed/35350246 http://dx.doi.org/10.3389/fgene.2022.692257

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