Alper Gokden

This study evaluates noninvasive biospecimens for transcriptome studies, finding hair follicles and urine cell pellets to be most promising for disease-relevant applications.

The paper uses long-read RNA-seq data to identify new transcripts and develop a tool to analyze genetic effects on transcript structure, revealing insights into splicing regulation and variant interpretation.

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.

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.