Interpreting non-coding variation

In this video, Dr Jenny Lord from the University of Sheffield discusses interpreting variations in the non-coding regions of the genome. While protein-coding genes constitute only 1-2% of the genome, the non-coding regions make up the vast majority. She explains that variant interpretation spans three areas:

• Coding Variants: Well-understood and established in clinical practice with clear tools and guidelines.
• Splicing Variants: Moderately established, with various tools but no gold standard. Splicing involves removing non-coding introns and joining coding exons, regulated by complex elements. New tools like SpliceAI, using machine learning, are improving accuracy.
• Non-coding Variants: Least understood and not routinely surveyed in clinical practice. These variants involve regulatory elements affecting gene expression, like promoters, enhancers, and untranslated regions. Tools for coding variation, such as conservation scores and CADD scores, are also applicable here.

Watch the video to learn more, and don’t forget to share your thoughts in the comments.