Abstracts/Presentation Description
Nicola Whiffin1
1University of Oxford
Untranslated regions (UTRs) are the regions directly up- and down-stream of the protein-coding regions of a gene that are transcribed into RNA, but do not form part of the final protein sequence. They have very important roles in regulating RNA stability, RNA localisation, and the rate of protein translation. I will discuss a variety of approaches that we have used to identify UTR variants with a role in rare disease. I will also show tools that we have developed to aid in identification and annotation of these variants in clinical settings.
1University of Oxford
Untranslated regions (UTRs) are the regions directly up- and down-stream of the protein-coding regions of a gene that are transcribed into RNA, but do not form part of the final protein sequence. They have very important roles in regulating RNA stability, RNA localisation, and the rate of protein translation. I will discuss a variety of approaches that we have used to identify UTR variants with a role in rare disease. I will also show tools that we have developed to aid in identification and annotation of these variants in clinical settings.