Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms
Giovanna Weykopf, Mihaly Badonyi, Elias T. Friman, Jasmine Minh Hang Nguyen, Alexis Ioannou, Benjamin Livesey, Audrey AC Coutts, Elizabeth F Hird, Murray Wham, Chloë M. Stanton, Véronique Vitart, Jing Su, Lee Murphy, John Kenneth Baillie, Mark D. Gorrell, , Simon Cameron Biddie
The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.
bioRxiv · Jul 24, 2025 · PreprintGenomics