Mo Li from King Abdullah University of Science and Technology (KAUST) in Saudi Arabia presented a five-minute session about “Single-cell full-length nanopore sequencing for quantitative variant analysis of native and genome-edited mitochondria.” They explained that human mitochondrial DNA (mtDNA) has a circular genome of 16.5 kb. Mutant mtDNA has an uneven distribution in tissues, and bulk short-read sequencing produces an “amalgamation” and fragmentation. Therefore, Li emphasized that new methods are needed. Single-cell individual mitochondrial genome sequencing (iMiGseq) was developed and is consistent between Nanopore and PacBio sequencing data. They used the approach to sequence human and mouse oocytes identifying numerous variants. Li explained that some SNVs exist in healthy humans. iMiGSeq was also used to study mitochondrial genome editing by confirming a deletion, for example. Another application Li shared was studying mtDNA heteroplasmy dynamics in blastoid generation. Li said that iMiGseq can be used to study mitochondrial mutations and disease, including effects of mitochondrial genome editing.This new method helps reveal heterogeneity in mitochondrial DNA that will be useful in understanding the impact of mitochondrial mutations.
