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