@jmarshlab.bsky.social
@jmarshlab.bsky.socialOur AVE Variant Effect Predictors resource now covers non-coding predictors too! Big thanks to Ben Livesey for building the original and Tesni Walsh for taking on the much messier non-coding landscape. Missing a method? Send it our way 👇 www.varianteffect.org/veps/ @uoe-igc.bsky.social
@jmarshlab.bsky.socialNew preprint from the lab! We used deep mutational scanning to measure the effects of nearly all amino acid substitutions in XPD/ERCC2. Our assay is strongly mechanism-selective, showing better discrimination between different disease phenotypes (TTD vs XP) than any computational predictors.
@hannahlong.bsky.socialReposted by @jmarshlab.bsky.social📣 Interested in non-coding disease-causing variants? Check out our review "Mechanisms underlying disease-causing variants in promoters and enhancers". Interesting mechanisms, challenges and future perspectives. Great to work with @wbickmor.bsky.social, Kun and Ryan! www.nature.com/articles/s41...