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Mitochondrial DNA Sequence Analysis

Mitochondria are the "powerhouses" of the human body that contains its own circular genome. Along with its unique circular genome, some of the genetic code or codons encode different amino acid than the human genetic code. Mutations in the mitochondria genetic code have been known to cause mitochondria myopathies, a group of diseases related to defect of the mitochondria. This group include Kearns-Sayre syndrome, dementia, deafness, blindness, and many other disorders. In order to study these diseases, researchers must study the mutations within the mitochondria genome. However, the difficulty of investigating the different mutations for mitochondria sequences is its circular genome and different genetic code. Most software packages do not have the capability to analyze across the overlap region near the end of the genome.

Mutation Surveyor can solve both problems while offering high accuracy, speed, sensitivity, and custom reporting features that include specific regions of interest. When analyzing mitochondria sequences, Mutation Surveyor automatically recognizes the tag in the GenBank file and utilizes the mitochondria genetic code without the user intervention. In addition, the software can recognize the end and start position of the circular sequence and annotate the positions correctly across the overlap region.

Figure 1: Mitochondria Overlap Region


The amplicon sequence in this illustration spans overlap region for the mitochondria circular genome. The software is able to align and annotate the sequence correctly. Also, the purple arrow in the GenBank pane shows the exact position of overlap.

Figure 2: Mitochondria Genetic Code


SNP detected in the coding region, indicated by the yellow band in the mutation electropherogram, caused an amino acid change that is indicated by the software.

Mutation Surveyor automatically uses the mitochondria genetic code by reading a tag in the mitochondria GenBank file. The "ATA" that normally encodes Isoleucine (I) is now read as Methionine (M) in Figure 2. The other amino acid codons AGA, AGG, and UGA are changed as well.

Mutation Surveyor is the solution to mitochondria analysis with unique algorithms for mutation detection while correctly displaying the annotations.

Application Notes:
Mitochondrial DNA Sequence Analysis using Mutation Surveyor® Software

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Mutation Surveyor Capabilities:
Detection Sensitivity & Accuracy
INDEL Detection
INDEL de-Convolution
Somatic Mutation Detection
Mutation Quantification
Methylation Analysis
Hypervariable Region Variant Detection
Reference Assembly
Custom Reporting Options
Alignment of Reads
Mitochondria DNA Sequence Analysis
Base Calling
Unattended Operation 









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