“Single-cell full-length nanopore sequencing for quantitative variant analysis of native and genome-edited mitochondria” is the title of the London Calling 2023 lightning talk I watched tonight. The presenter was Mo Li from King Abdullah University of Science and Technology (KAUST) in Saudi Arabia. Li spoke about the human mitochondrial genome (mtDNA) and the challenges in studying mtDNA. Human mtDNA is circular and about 16 kb long, and mutations in mtDNA are responsible for diseases. Most approaches study mitochondrial DNA in aggregate and through fractionation. These approaches do not reveal the true variation. Single-cell individual mitochondrial genome sequencing is the name of the method Li and colleagues developed. The researchers named this approach iMiGseq and compared PacBio and Nanopore sequencing. With this approach, they studied mtDNA and noted intriguing frequencies of variants in human mtDNA. VAULT is the name of the bioinformatics workflow the team created. The approach helped identify rare heteroplasmic SNVs. The iMiGseq was used to study mitochondria genome editing. Li shared data noting how iMiGseq can be used to learn about mitochondrial genome variation, editing, and disease. Application of this approach helps reveal the true heterogeneity of human mtDNA.
