Genetic variants can cause protein-coding mutations that result in disease. What about in alternative isoforms? Excited to share my first first-author pre-print! Here we show many variants reside in tissue-specific isoforms, causing coding mutations. 1/
https://bit.ly/455I6T6

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.

Congratulations to @gweykopf.bsky.social for her first first author manuscript, now on biorxiv.

www.biorxiv.org/content/10.1...

Many thanks to all involved - @wbickmor.bsky.social @mbadonyi.bsky.social @eliasfriman.bsky.social, Joe Marsh, Jasmine Nguyen, Mark Gorrell and others.

GWAS to mechanism: when non-coding is coding. Beautiful insightful science from @gweykopf.bsky.social @simonbiddie.bsky.social Joe Marsh and many colleagues. @uoe-igc.bsky.social @cmvm-edinburghuni.bsky.social www.biorxiv.org/content/10.1...