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

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...

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.

Truly amazing week at the #EMBOEnhanceropathies workshop at Hindsgavl slot, what a great community to be working in!

The #EMBOenhanceropathies workshop was truly outstanding - such a wonderful community to be part of and exciting science from start to finish! Group photo in front of Hindsgavl Slot @edinburgh-uni.bsky.social @uoe-igc.bsky.social - we had a blast! 🧬

That’s a wrap on the @gensocuk.bsky.social Epigenetics meeting in Belfast, what an absolute treat it’s been! #Epigenetics2025

Lovely ‘Hidden Cell, Dark Genome’ meeting right here in Edinburgh over the past couple of days! Really enjoyed and finally learned what hidden cell means