Dataset related to article:AN INHERITED MTDNA REARRANGEMENT, MIMICKING A SINGLE LARGE-SCALE DELETION, ASSOCIATED WITH MIDD AND A PRIMARY CARDIOLOGICAL PHENOTYPE

Raw data including bam files and reads extraction from Illumina short-read sequencing (gene panel of 300 nuclear genes associated with mitochondrial diseases + mtDNA probes; specific PCR amplicons of mtDNA) and ONT long-read sequencing (whole genome sequencing). All files were obtained from subject I-1’s samples (muscle biopsy; PBMCs from blood)本数据集的原始数据包含BAM文件（Binary Alignment Map）以及从两种测序中提取的读段：其一为Illumina短读长测序，其测序方案包含两类：一是针对300个与线粒体疾病相关核基因的基因panel（基因面板）搭配线粒体DNA（mitochondrial DNA, mtDNA）探针，二是线粒体DNA的特异性PCR扩增子；其二为ONT长读长测序，该测序为全基因组测序。所有文件均取自受试者I-1的样本，具体包括肌肉活检组织与血液中的外周血单个核细胞（Peripheral Blood Mononuclear Cells, PBMCs）。