Simon Biddie
@simonbiddie.bsky.social
Senior Clincial Lecturer, University of Edinburgh
We find many rare and common variants map to alternative isoforms to cause missense mutations - with many of the isoforms not annotated, and identified from long-read RNA-seq.
Check your variants location, and the gene’s transcripts when thinking of function.
Check your variants location, and the gene’s transcripts when thinking of function.
July 29, 2025 at 2:37 PM
We find many rare and common variants map to alternative isoforms to cause missense mutations - with many of the isoforms not annotated, and identified from long-read RNA-seq.
Check your variants location, and the gene’s transcripts when thinking of function.
Check your variants location, and the gene’s transcripts when thinking of function.