STAMP: a multiplex sequencing method for simultaneous evaluation of mitochondrial DNA heteroplasmies and content.

ABSTRACT: Human mitochondrial genome (mtDNA) variations, such as mtDNA heteroplasmies (the co-existence of mutated and wild-type mtDNA), have received increasing attention in recent years for their clinical relevance to numerous diseases. But large-scale population studies of mtDNA heteroplasmies have been lagging due to the lack of a labor- and cost-effective method. Here, we present a novel human mtDNA sequencing method called STAMP (sequencing by targeted amplification of multiplex probes) for measuring mtDNA heteroplasmies and content in a streamlined workflow. We show that STAMP has high-mapping rates to mtDNA, deep coverage of unique reads and high tolerance to sequencing and polymerase chain reaction errors when applied to human samples. STAMP also has high

SUBMITTER: Guo X 

PROVIDER: S-EPMC7573736 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature