excited to be at #ASHG25! Lab has brought a series of functional screens - talks tomorrow from postdoc Adelaide Tovar @adel-aide.bsky.social (945am) and clinical asst prof Tony Scott (215pm) showing a pair of high-throughput functional screens.

We hope this serves as a useful resource to assist with rare variant interpretation, and believe our approach can be extended to other DNA repair factors where the #VUS burden challenges the actionability of genetic testing. 5/5

In short: SpliceAI and Pangolin generally performed well. Splicing effects are harder to predict in exons vs introns. Gene model annotation really matters!  We think the places where they disagree will be interesting targets for future MPSAs.  3/3

Last paper from the group for 2023, now out at Genome Biology! Led by recent bioinformatics grad Cathy Smith, we used #VariantEffect maps from massively parallel splicing assays (MPSA) to test bioinformatic splicing effect predictors genomebiology.biomedcentral.com/articles/10....  1/3