Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA

Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtDNA variants in health and disease, but confident resolution of very low-level variants (<2% heteroplasmy) remains challenging due to the difficulty in distinguishing signa...

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Detalles Bibliográficos
Autores principales: Gardner, Kristian, Payne, Brendan AI, Horvath, Rita, Chinnery, Patrick F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326723/
https://www.ncbi.nlm.nih.gov/pubmed/24896153
http://dx.doi.org/10.1038/ejhg.2014.96

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326723/
https://www.ncbi.nlm.nih.gov/pubmed/24896153
http://dx.doi.org/10.1038/ejhg.2014.96

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