Reviewing Clinical Studies for Novel Splice Variants in VSClinical
![DNA spliced site](https://www.goldenhelix.com/blog/wp-content/uploads/2021/10/10.20.21-BLOG-Featured-Image-176x176.png)
In order to thoroughly assess a variant’s pathogenicity, it is important to take into account the variant’s effect on splicing. While the interpretation of variants that disrupt the pairs of bases at the beginning of a splice site is fairly straightforward, variants resulting in the introduction of a novel splice site are more difficult to interpret. In this blog post,… Read more »