Evaluating Splice Site Variants in VarSeq

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Recorded On: Wednesday, February 13, 2019

To adequately assess a variant's pathogenicity it is crucial to take into account the variant's effect on splicing. While mutations that disrupt the pairs of bases at the beginning of a splice site are straightforward to identify, detection of disrupted splice sites caused by changes to the splice motif is more difficult. In this webcast, we will discuss VarSeq's capabilities for detecting both disrupted and novel splice sites. This will include a deep dive into several splice site variants to examine their effect and assess their pathogenicity.

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