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.

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

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.

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...

biorxiv.org

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...