In collaboration with researchers at the NIH, SoftGenetics has developed a biologist and geneticist-friendly tool designed to speed up and simplify the discovery of causative mutations. Sequencing the exomes of a small family or several individuals with similar phenotypes can result in a list of hundreds of thousands of possible mutations.
The NextGENe Variant Comparison and prediction database tool makes it easy to narrow down the found variation list based on several levels of criteria:
Figure 1: In this family of 6, with two affected children, the exomes of the entire family- mother, father, two unaffected and the two affected children were sequenced. The nearly 280,000 shared variants were quickly reduced by the NextGENe variant comparison tool allowing geneticists to quickly ascertain potential causative mutations.
Pricing & Trial Version:
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