| SoftGenetics Products -
Mutation Explorer
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Analysis courtesy
of Dr. Yidong Bai, Assistant Professor, University of Texas
Health Centre, San Antonio TX |
Accuracy of
the software in the bi-directional analysis mode is over 99%,
with sensitivity to greater than 5% of the primary peak. |
Mutation Explorer™ - A Diagnostic
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.
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Homozygote Detection
Homozygote Variants are detected when the colour of the reference
drops 100% being replaced in the same spatial position by
a second colour in the sample or patient. |
Heterozygote Detection
The software detects heterozygote variants by observing a
drop in colour of in the sample vs. the surrounding peaks
and the reference, with a second wave length growing in approximately
the same proportion and in the same spatial position. |
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 other text based comparison software; providing an
extremely low false positive rate and . In the event that a heterozygote
insertion or deletion is detected, the software will de-convolute
the multiple patient trace into two clean traces, while continuing
with the mutation detection.
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Insertion Detection
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Deletion Detection
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Surveyor and
Explorer monitor the migration time of the DNA fragments in
comparison to the references. If the program detects a change
in the migration time, the centre 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. |
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-analysed 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 customisable
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.
 Download
the DNA
Variant Analysis PDF 
(1.18Mb)
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