SoftGenetics - Software PowerTools for Genetic Analysis


Cystic Fibrosis ARMS™ & Comparative Analysis

ARMS™ (Amplification Refractory Mutation System, Newton et al. 1989) allele specific amplification technology, detects point mutations, insertions or deletions in DNA. GeneMarker® software genotyping software accepts CE data from Beckman CEQ™, ABI PRISM®, or MegaBACE™ genetic analyzers providing fast, accurate genotyping; the linked ARMS/Comparative Analysis application compares file pairs for a given individual, presenting results in a concise clinical research report. It is ideal for analysis of samples from GenProbe® EU-2 for cystic fibrosis (or any project where the different dye channels for duplicate files need to be compared).


The Highlight Abnormal Allele Option in the main analysis window is ideal for CF analysis using kits such as the Abbott® Cystic Fibrosis Genotyping Assay (Oligonucleotide-Ligation-Assay, OLA). The main analysis screen provides rapid visual evaluation of mutant alleles in the electropherogram and Allele Report. Mutant allele labels are displayed in contrasting color in electropherogram for instant visualization of mutant alleles. MCC testing may be easily performed using ChimerMarker® software prior to prenatal genetic testing, for diseases such as cystic fibrosis.


Review Results from GeneProbe EU-2 in the ARMs application. The application includes automated grouping of two dye chemistry, trace comparison of mutant and wildtype allele calls, a difference histogram and report table.


Final Report includes Customized Header, Elecropherograms, Difference Histogram, Report Tables and Authorization/Conclusion box.


Review Results from Abbott Cystic Fibrosis Genotyping Assay.


Example of Abbott CF allele report with heterozygous mutations (purple mutant allele labels)


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SoftGenetics - Software PowerTools for Genetic Analysis

SoftGenetics - Software PowerTools for Genetic Analysis


















SoftGenetics - Software PowerTools for Genetic Analysis





SoftGenetics - Software PowerTools for Genetic Analysis

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