Integrated FragileX Analysis Module Added to GeneMarker® Software

December 9, 2013, State College PA Sof Genetics announced the release of its latest version of its widely used GeneMarker® Software which now includes a totally integrated module for up to 50% faster, more accurate calculation of Fragile X triplet CGG Repeats and Percent Methylation. The module streamlines Fragile X analysis by integrating size calling, calculations and reporting into one seamless program. The new GeneMarker module eliminates the need of time‐consuming and error‐prone transfer of genotyping results into a separate spreadsheet program to perform required calculations, while providing a customizable lab report of findings.

Dr. Charlotte Brasch Andersen , Molecular Geneticist, Associate Professor Odense Universitetshospital, Denmark, a beta tester of the new module, commented that “the Fragile X application in GeneMarker has incorporated all of the features needed for our data analysis”.

The integrated Fragile X application automatically coordinates edits in Control and Digestion channels for two‐dye projects and performs repetitive calculations; converting fragment size to repeat length and calculating percent methylation. Analysis parameters are easily customized to fit the SOP for the laboratory; with automated calculation of Correction Factors using a control sample with fragments of known CGG repeat length or a .txt file with the CGG repeat and bp size. Reporting options include .xls, .txt files of result tables and image files of individual sample reports, and color‐coded project summary reports.

Dr. Andrew Hadd, Associate Director of R&D at Asuragen notes that he is “very pleased to see companies like SoftGenetics making innovations in fragment analysis software that can streamline data analysis and help to advance research in this important and rapidly developing area that includes Fragile X Syndrome and Autism Spectrum Disorders, as well as other FMR1 gene disorders.”

GeneMarker Product Manager, Teresa Snyder‐Leiby, noted that “much like GeneMarker software automation of MLPA® analysis and our ChimerMarker software automation of Chimerism testing, this new Fragile X module affords clinical researchers significant time savings. Furthermore, these improvements increase analysis accuracy while avoiding the time consuming and error‐prone necessity of data transfer from genotyping programs to spreadsheets for calculations and then transferring results to a separate laboratory report.”

The new module is compatible with all major Fragile X kits, as well as locally developed chemistries.

SoftGenetics provides a pre‐recorded webinar on GeneMarker software as well as no cost 30‐day trials of the software on its website:

Contact Information:

John Fosnacht
[email protected]
SoftGenetics LLC The Oakwood Centre
State College PA 16803