Margot K. Brandt

This study identifies a risk variant for autoimmune disease that acts as a trans-eQTL regulating IRF1 under immune stimulation, demonstrating its causal role and mechanism.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper introduces a CRISPR/Cas9-based assay to test regulatory effects of genetic variants and applies it to detect effects in eQTLs and nonsense-mediated decay.

EdiTyper analyzes targeted sequencing data from genome editing experiments to detect mutations and indels with high accuracy and scalability.