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
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
Exclusive Data Compression Engine
Mutation Explorer and Surveyor store the original 4 colour data,
and 12 colour 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.
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 colour
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 Surveyor are Microsoft Windows based, and
are designed in an intuitive web-based logic flow, providing an
exceptionally short learning curve.