Mitochondrial Whole Genome Sequencing

Based on liquid phase probe hybridization capture technology and multiple PCR amplification technology, Creative Biogene developed two sets of mitochondrial capture schemes for mtDNA capture and combined with the Illumina platform for high-throughput, high-depth sequencing, and finally carried out bioinformatics analysis to provide a solution for mitochondrial genome detection.

Mitochondrial whole genome sequencing uses a high-throughput sequencing platform for mitochondrial whole genome sequencing of different individuals or groups and bioinformatic analysis at the individual or population level. Mitochondrial whole genome sequencing can fully explore the genetic variation of mtDNA level, and provide important information for screening disease pathogenic and susceptible genes, studying disease genetic mechanism, evolution, and population genetics.

Figure 1. MtDNA mutation characteristics. ( Wang Y.,et al., 2016)

Analysis Content

  • Raw data collation and quality evaluation
  • Sequence filtering, statistical enrichment efficiency
  • Reference genome alignment and annotation statistics
  • SNV/InDel/CNV/SV detection, comments, statistics

Other Analysis Content (optional)

  • Mutation site filtering (database filtering, matching normal sample filtering)
  • Genetic model analysis based on pedigree information
  • Functional annotation of candidate pathogenic mitochondrial genes
  • Enrichment Analysis of Mitochondrial Gene Pathway of candidate Pathogenicity
  • Based on pedigree linkage analysis
  • Analysis of homozygous regional strategy
  • Correlation analysis of common variation
  • Gene load test of rare variation

Work Flow

Creative Biogene always provides you with customized services for mitochondrial research, and our one-stop research and analysis platform can meet all your research needs.

Technical characteristics

  • Compared with the SNP chip, new rare mutations can be discovered.
  • Compared with exon and target region sequencing, MtWGS can detect a variety of variation information, especially in detecting large structural variation (large region CNV, inversion, translocation). At the same time, non-coding region variation can be detected.
  • There is no capture and enrichment, the coverage of effective data is uniform, the experimental process is simpler, and the experimental period is shorter.
  • MtDNA genomic probes/primers were designed based on the thermodynamic model.
  • It can cover the full length of all mitochondrial genomes at 100%.
  • From mtDNA extraction and quality inspection to library construction and computer sequencing, the experimental process is strictly controlled to ensure the high accuracy of the data.
  • The standard automatic preparation process effectively reduces cost and high performance-to-price ratio.
  • Two sets of capture schemes to meet different scientific research needs.
Related Services

Our Advantages

  • Rich experience in mitochondrial whole genome sequencing
  • Outstanding research team
  • Unique integrated service for mitochondrial research
  • Reliable data and results
  • Rapid turnaround and cost-effective

Creative Biogene has the most professional team to serve customers around the world. If you have any questions about the content of this service, please feel free to contact us. We look forward to your contact.


  1. Wang Y., Picard M., et al. “ Genetic evidence for elevated pathogenicity of mitochondrial DNA heteroplasmy in autism spectrum disorder. ” PLOS Genetics, 2016, 12(10): e1006391.
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