GenomicsbioRxivPreprint
Unique molecular identifier-based single strand mitochondrial DNA sequencing for rare substitution mutations
Zeshuo E.S. Li, Rachel Dunn, Loïc C. Caloren…·Hélène C F Côté
This paper introduces a UMI-based sequencing method to detect ultra-rare mtDNA mutations in total genomic DNA, enabling reliable quantification of variants at 0.05% allele frequency.
DOI 10.1101/2025.06.05.657263