URMD-Seq: Targeted mtDNA Control Region Sequencing in Human Genomic DNA (R14 Dataset)
This project includes targeted sequencing data from the R14 run of the URMD-Seq (Ultra-Rare Mutation Detection Sequencing) pipeline, a UMI-based method developed for ultra-sensitive detection of human mitochondrial DNA (mtDNA) mutations in the control region.Genomic DNA was extracted from human tissue samples and amplified using degenerate primers that incorporate unique molecular identifiers (UMIs) to enable consensus-based error correction. Amplicons were sequenced using the Illumina MiSeq 2x300 bp platform.The resulting FASTQ files are used for downstream consensus generation, artifact filtering, and ultra-rare variant detection as described in the associated manuscript: Li ZES et al., URMD-Seq: a high-throughput method for scalable detection of ultra-rare mutations in the human mitochondrial genome (submitted to Nucleic Acids Research).