Simon Biddie
@simonbiddie.bsky.social
Senior Clincial Lecturer, University of Edinburgh
Reposted by Simon Biddie
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
https://bit.ly/455I6T6
July 30, 2025 at 11:09 AM
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
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.
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...
www.biorxiv.org
July 29, 2025 at 2:37 PM
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.
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.
Reposted by Simon Biddie
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...
July 28, 2025 at 9:50 AM
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...