Benjamin Jung Fair

This study develops a small-molecule approach to reduce prion protein by modulating pre-mRNA splicing, achieving ~70% PrP reduction in cells and demonstrating synergistic effects with a Luc7L activator in mice.

LeafCutter2 identifies and quantifies unproductive splicing events from RNA-seq data, revealing their role in gene regulation and disease, including Alzheimer's.

The paper estimates the impact of alternative splicing coupled with nonsense-mediated decay on gene expression levels using population-scale genomic data and perturbation experiments.

The paper introduces CoLa-seq to profile splicing timing and identifies genetic factors influencing co-transcriptional splicing in human cells.

The paper examines how regulatory variants in immune cells affect genetic risk for immune traits by analyzing QTLs and GWAS loci overlap.

This study compares gene expression variability and eQTLs in humans and chimpanzees, finding shared genetic and non-genetic determinants of inter-individual expression differences.

The paper introduces a targeted RNA-sequencing method using complex primer pools to detect rare splice isoforms with high precision.