GeneMarker Repeat Expansion Analysis Application

Published: 12 November 2020
on channel: softgenetics
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Expansions of simple sequence repeats, mainly but not limited to tri-nucleotide repeats, are responsible for over 40 human diseases. In general, an increasing number of repeats results in a more severe phenotype, and the number of repeats increase (expand) as the disease gene is inherited. The Repeat Expansion Application in GeneMarker software is linked to the main analysis window and performs repetitive calculations converting fragment size to repeat length. This webinar walks you through the steps for analysis.


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