Mutation Explorer^® ... A Clinical Tool

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.

We have built Explorer for ease of use, and quick learning. Normal operation involves only two steps: data input, (Genbank, references and patient traces) followed by review of the differences of the patient to reference as indicated in the mutation electropherogram. Most analysts have found, after becoming familiar with the program’s performance, that peak to peak review of the traces is no longer necessary.

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.

Enhanced Indel Detection

Assembly and Alignment: SoftGenetics’ Robust Alignment algorithm has been complemented by another product based algorithm. The 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.

Insertions and deletions are found by comparing the migration time of the sample to that of the reference, eliminating the false and over calls of text based comparison software, providing an extremely low false "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.

Assembly of a “whole gene” mutational analysis is easily accomplished. To assemble the mutational analysis of an entire gene simply enter the Genbank data, pre-analyzed fragments, and the software will assemble, providing the locations of the found variants in bp order, and calculate an allele frequency.

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.

Application Note

Somatic Mutation Detection Technical Note [pdf]

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