GeneMarker™ FAQ | Mutation Surveyor™ FAQ | Softgenetics Technology

SoftGenetics Technology

SoftGenetics employs several unique technologies, providing high sensitivity, accuracy and low false positive rates not possible with other programs.

In a blind study conducted with a national laboratory, SoftGenetics variant detection technology
located up to 30% more variant locations than programs based upon alternative technology.

Variant Detection

SoftGenetics’ anti-correlation technology performs a point-to-point physical comparison of DNA sequence traces. The program performs equally as well with either terminator or primer chemistries from either gel or capillary systems from all manufacturers. The technology uses 5 separate orthogonal parameters to ascertain the absence or presence of DNA variants in sample traces when compared to reference electropherogram, even in the presence of background noise.

By performing a comparison of the actual sequence traces, SoftGenetics’ anti-correlation technology provides significantly enhanced variant discovery over base text call programs. Text call programs are prone to high levels of false positives and are dependent upon the quality of sequence quality and accuracy of text base call program.

Assembly and Alignment

Our unique Robust Alignment algorithm is employed in both Mutation Explorer & Mutation Surveyor. The technology utilizes a moving window throughout the sequence, matching the set number of bases in the sample sequence to the reference, goes to the next base, makes a second comparison then to the 3rd base, etc. aligning sequences regardless of sequence quality or text call accuracy. This permits the program to utilize sequence traces of varying qualities, significantly speeding up the pace of discovery while reducing the need of costly re-sequencing.

Exclusive Data Compression Engine

Mutation Explorer and Mutation Surveyor store the original 4 color data, and 12 color mutation data for each project by employing our exclusive data compression engine; eliminating the need for reprocessing mutation analysis, while significantly reducing data storage by reducing data on up to a 10:1 ratio. Data can be further zipped using commercially available programs for a total compression of up to 30:1.

Mutation Electropherograms

Found variants are displayed as sharp peaks in a generated electropherogram. The peaks are identifiable by either visual or electronic identification methods. The confidence of the mutation call is displayed in a color-coded scoring system for rapid and accurate confirmation of variant presence.

Concise Reporting & Output

Results of mutation analysis are reported in concise tabular format definable by the user. The reports are linked to the actual sequence and mutation electropherograms. Data is easily exported to LIMS or spreadsheets in tab delimited text format.

Easy Navigation & Low Learning Curve

Mutation Explorer and Mutation Surveyor are Microsoft Windows based, and are designed in an intuitive web-based logic flow, providing an exceptionally short learning curve.

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