Mitochondrial Genome Analysis

Mitochondrial Genome Analysis Online Inquiry

CD Genomics as one of the providers of mitochondrial genome analysis, We use the method of bioinformatics analysis to study mtDNA mutation sites and heterogeneity to help reveal the pathogenesis of mitochondrial-related diseases. Our unique data analysis skills and appropriate software tools can meet customers' personalized laboratory data analysis needs, and provide you with easy-to-interpret data analysis reports.

Introduction of Mitochondrial Genome

Mitochondria are a very important organelle in eukaryotic cells, and are the places where cells undergo oxidative phosphorylation. Mitochondria have their own DNA and genetic system, which are closely related to biological evolution and cell origin. The whole mitochondrial genome also has unique advantages in the study of biological evolution. Since mitochondria have a long-term evolutionary history of symbiosis with eukaryotes, their genome contains key information reflecting the evolution of species. At the same time, compared with the nuclear genome, the mitochondrial genome is small, and it is easy to conduct horizontal comparative analysis of a large number of species, which is beneficial to the study of biological evolution.

Mitochondrial genome data is widely used in systems and evolutionary biology, population genetics and conservation biology. With the development of sequencing technology and the reduction of costs, as well as the development of bioinformatics, a large number of mitochondrial genome sequences have been sequenced. The content of mitochondrial bioinformatics analysis mainly includes assembly, annotation, and structure drawing.

Fig 2. Characteristics of mtDNA variants.Fig 1. Characteristics of mtDNA variants. (Y Wang, M Picard, et al. 2016)

Application of Mitochondrial Genome Analysis

Classification and identification of species.

Research on genetics and molecular phylogeny of animal populations.

Mitochondrial DNA sequence variation is used as a marker for population genetics and phylogeny research.

Analysis of genetic variation in geographic populations.

Human identification, forensic medicine.

Cancer research.

Advantages of Mitochondrial Genome Analysis

Detect common and rare mitochondrial point mutations and deletions.

Rapid analysis of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA).

Accurately and sensitively measure heterogeneity.

Analysis of the highly variable region of the D-loop and/or the entire mitochondrial genome.

CD Genomics Analysis Pipeline

Fig 3. Pipeline of Mitochondrial Genome Analysis. - CD GenomicsFig 2. Pipeline of mitochondrial genome analysis.

Bioinformatics Analysis Content

Common NGS analysis methods for mitochondrial disease-related mutations include whole exome sequencing and targeted gene sequencing. For whole exome sequencing and targeted gene sequencing data, we provide standard biological information analysis and advanced analysis.

Standard analysis Sequencing data statistics
Remove adapter sequence and low-quality sequence
Align with mitochondrial reference sequence
Statistics sequencing depth and coverage
SNP / Indel detection
Annotation and statistics (including frequency database mtDB, OMIM, MitoMap, MitoIMPACT database)
Heterogeneity detection, annotation and statistics
Mitochondrial Circos diagram analysis
Advanced analysis Mutation site harmfulness screening
Shared mutation screening
Site significance association analysis
Genetic significance analysis

For Mitochondrial Genome advanced analysis, the sample size of the original data needs to meet a certain number of requirements before relevant analysis can be carried out. In addition, for data analysis, if you have other personalized requirements, we will provide appropriate biological information analysis content according to your needs. For analysis content, price, cycle, if you have any questions, please click online inquiry.

Turnaround Time

Fig 4. Mitochondrial Genome Analysisturnaround time - CD Genomics

About one to two weeks, It is also related to the type of input raw data, and the analysis content.

Bioinformatics-Analysis, a division of CD Genomics, provides mitochondrial genome analysis according to customer’s requirements. It has been engaged in mitochondrial genome sequencing for a long time. Through research on various diseases, animals and plants, we have accumulated and solved various problems encountered in mitochondrial retrieval, such as gene rearrangement, repetitive sequences, high GC and other structures. If you are interested in our services, please contact us for more detailed information.


  1. Y Wang, M Picard, et al. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder[J].Plos Genetics, 2016,12(10): e1006391.
* For Research Use Only. Not for use in diagnostic procedures.
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