Last by by no means least - I recently got to celebrate my PhD era and publications with a wonderful graduation ceremony 🎓 @uoe-igc.bsky.social @edinburghuni.bsky.social

Our second story from my PhD is now published too! Great to see this out and thanks to all involved! @eliasfriman.bsky.social @wbickmor.bsky.social @simonbiddie.bsky.social journals.plos.org/plosgenetics...

Identifying severe COVID-19 risk variants modulating enhancer reporter activity in lung cells

Author summary Individual humans show widely varying responses to viral infection, including from SARS-CoV-2, which causes COVID-19. Part of this variation is driven by host genetic factors, where gen...

journals.plos.org

Giovanna Weykopf@gweykopf.bsky.social · 5mo ago

*New pre-print* I’m delighted to share the second story from my PhD 🥳 We identify 29 severe COVID-19-associated human genetic risk variants that modulate enhancer activity in lung epithelial cells 1/10 www.biorxiv.org/cgi/content/...

Very happy to see the first story from my PhD now published! Genetic variants causing coding mutations in alternative isoforms are more common than we thought, plus a novel DPP9 isoform 🧬 @wbickmor.bsky.social @eliasfriman.bsky.social @simonbiddie.bsky.social www.nature.com/articles/s41...

Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms - Nature Communications

Isoforms are seldom considered in genetic variant interpretation. Here the authors map common and rare variants to alternative isoforms, which can be highly expressed and tissue-specific. A common DPP...

nature.com

Giovanna Weykopf@gweykopf.bsky.social · last yr.

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

Great to see this lovely functional genomics work from @gweykopf.bsky.social @jmarshlab.bsky.social @kennethbaillie.bsky.social @gorrellmsydney.bsky.social @simonbiddie.bsky.social published. What at first sight seemed to be non-coding turns out to be coding. www.nature.com/articles/s41...

Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms - Nature Communications

Isoforms are seldom considered in genetic variant interpretation. Here the authors map common and rare variants to alternative isoforms, which can be highly expressed and tissue-specific. A common DPP...

nature.com

Distal and proximal transcriptional activation may not be so different - check out the latest pre-print from @eliasfriman.bsky.social Very happy to have contributed a small part and seen this story develop!

Elias Friman@eliasfriman.bsky.social · 3mo ago

Is distal gene activation by enhancers inherently different from promoter-proximal activation? We propose not. But both cohesin and cooperativity are important aspects of how transcription is affected. Happy to share our recent preprint (thread below) 1/ www.biorxiv.org/content/10.6...

Although cohesin-sensitive, long-range enhancer activation is equivalent in nature to proximal activation. Cooperativity can arise from different levels of activation inputs operating on a non-linear response function. @eliasfriman.bsky.social @uoe-igc.bsky.social www.biorxiv.org/content/10.6...

New pre-print identifying 29 Covid GWAS variants that drive allele-specific activity in a functional genomics screen in lung cells, from @gweykopf.bsky.social and @eliasfriman.bsky.social @simonbiddie.bsky.social www.biorxiv.org/content/10.6... @uoe-igc.bsky.social @uk-fgx.bsky.social

*New pre-print* I’m delighted to share the second story from my PhD 🥳 We identify 29 severe COVID-19-associated human genetic risk variants that modulate enhancer activity in lung epithelial cells 1/10 www.biorxiv.org/cgi/content/...

A personal milestone - PhD successfully defended (with no corrections 🥳) A heartfelt thank you to my supervisors @wbickmor.bsky.social @simonbiddie.bsky.social @eliasfriman.bsky.social @KennyBaillie and the entire Bickmore lab who made this a wonderful 4 years ✨

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.

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

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