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Mutation Explorer® ... A Clinical Tool





Mutation Explorer is extraordinarily easy to learn and use. Two mouse clicks and the analysis is ready for review. Found variants are easily discernable in the center “mutation panels”, the presences of Indels is quickly noted by the center green line in the mutation panels.

Our physical comparison technology provides sensitivity and accuracy not possible with other base call oriented programs.

Mutation Explorer processes up to 48 lanes, 24 bi-directional, of patient DNA sequence traces. Data input can be from either slab gel or capillary sequencers, using either terminator or primer chemistries. The detection parameters in Explorer have been “sealed” to provide analyst to analyst consistency


 

The software automatically forms contigs, performs alignments and mutation detection comparing both forward and reverse patient traces to reference or normal traces. Homozygote and Heterozygote mutations are indicated by sharp peaks in our exclusive mutation electropherogram.


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Homozygote Detection
Homozygote Variants are detected when the color of the reference drops 100% being replaced in the same spatial position by a second color in the sample or patient.

         


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Heterozygote Detection
The software detects heterozygote variants by detecting a color drop in the patient/sample base, while a second wave-length is observed in the same spatial position and proportion.

Sensitivity & Accuracy

Analysis courtesy of Dr. Yidong Bai, Assistant Professor, University of Texas Health Center, San Antonio TX

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Accuracy of the software in the bi-directional analysis mode is over 99%, with sensitivity to greater than 5% of the primary peak, when Phred quality 20 sequence traces are used.

Enhanced Indel Detection

Assembly and Alignment: SoftGenetics’ Robust Alignment algorithm has been complemented by another product based algorithm. This new technology utilizes a moving window throughout the sequence trace continually matching the sample peaks to those of the reference. When alignment ceases, program begins to “gap” either sample or reference trace until alignment is restored.

Enhanced alignment engines allow routine detection of 1bp indels.

Enhanced detection algorithm allows routine detection of 1bp indels and multiple indels.

Surveyor/Explorer's new alignment will correctly align traces containing up to 10% variation from reference, making them excellent tools for aids, plants and other multi variant sequence traces.

Mutation Explorer robust alignment algorithm can align traces with up to a 20% difference in bases from the reference

Insertions and deletions are found by a physical comparison of the migration of the sample to that of the reference, eliminating the false and over calls of text based comparison software, providing an extremely low "false" positive rate. In the event that a heterozygote insertion or deletion is detected, the software will de-convolute patient trace following frame shift into two clean traces, while continuing with the mutation detection.


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Insertion Detection

             

 


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Deletion Detection

Mutation Surveyor and Mutation Explorer monitor the migration time of the DNA fragments in comparison to the reference. If the program detects a change in the migration time, the center line turns from green to red indicating the presence of an insertion or deletion. The software then re-aligns the traces, to calculate the Indel. The position of the Indel is indicated by the heavy red line.

Heterozygote Insertion and Deletion Detection and De-Convolution

Heterozygote Insertions and deletions from 1 bp to over 100 bp are de-convoluted into two clear traces, and mobility shifted, the mutant is then compared to the reference to indicate the Indel size and context.


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Reporting:

Reporting is extremely user-friendly with several customer customizable reporting formats, or the customer can easily cut and paste areas of interest to any graphics capable program such as Microsoft Word. Reports can be easily exported in text, XML or HTML formats. Click here to see examples of the reporting feature.

Mutation Explorer is priced to be affordable. The 48 lane program is available to institutions for $2,950.00.

To learn more regarding the program’s operation and capabilities, please review the video manual.

 
     

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