Genetic research
Bioinformatics Pipeline Detects Mitochondrial DNA Variants with High Accuracy
Researchers from Maastricht University have developed a novel bioinformatics pipeline that effectively detects homoplasmic and heteroplasmic mitochondrial DNA (mtDNA) single nucleotide variants (SNVs) in single-cell RNA sequencing (scRNA-seq) data. The pipeline includes quality control, alignment to the mitochondrial genome, SNV calling, and annotation, and filters out sequencing errors. This breakthrough