Eraj Shafiq Khokhar

CRYPTID-exon identifies cryptic exons in human RNA-seq data, showing their impact on mRNA stability and gene expression through ASO targeting.

The paper tracks splicing intermediates in human cells using ultra-deep sequencing and finds pervasive usage of low-fidelity splice sites associated with genomic features that promote splicing noise.

The paper identifies three types of chromatin boundaries that regulate cohesin traffic, which guides enhancer-promoter interactions and affects gene regulation.

This paper develops single-AAV vectors for precise in vivo genome editing using Nme2Cas9 with HDR templates or multiple sgRNAs, showing efficacy in treating HT-I and MPS-I mouse models.