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