iiinova — where your digital self keeps evolving

Simon Biddie

@simonbiddie.bsky.social

19 followers 21 following 2 posts

Senior Clincial Lecturer, University of Edinburgh

Posts Replies Media

Reposted by Simon Biddie

Institute of Genetics and Cancer @uoe-igc.bsky.social · 16/06/2026

We recently celebrated our research at an IGC Science Away Day with a wide range of presentations and flash talks. In addition, there were nearly 60 scientific posters on display throughout the day - congratulations to our three winners Anna Maria Ochocka-Fox, Alexis Ioannou and Alexandra Lesayova.

011

Reposted by Simon Biddie

Giovanna Weykopf @gweykopf.bsky.social · 30/07/2025

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/ bit.ly/455I6T6

281

Simon Biddie @simonbiddie.bsky.social · 29/07/2025

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.

biorxiv.org

Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms

Genetic variants can cause protein-coding mutations that result in disease. Variants are typically interpreted using the reference transcript for a gene. However, most human multi-exon genes encode al...

163

Reposted by Simon Biddie

Wendy Bickmore @wbickmor.bsky.social · 28/07/2025

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...

1146