Arun K Ramani

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

The paper identifies conserved transcriptional changes across sex and species after peripheral nerve injury and predicts a new analgesic treatment using a drug-gene interactome analysis.

The paper analyzes whole-genome sequencing data from Cas9-edited mice to assess off-target mutagenesis, finding minimal off-target activity across 163 guide RNAs.

MetaFusion improves fusion detection by combining multiple callers, achieving higher precision and recall through standardized annotation and graph clustering.

CReSCENT provides a web-based toolkit for analyzing scRNA-seq data in cancer research, offering preconfigured pipelines and user-editable workflows for non-experts.

FORCAST is a software pipeline that integrates existing tools to design, evaluate, and store Cas-mediated mutagenesis experiments.

The paper identifies RNA-specific gene fusions in tumors and normal tissues, showing they are linked to spliceosomal gene dysregulation and may contribute to cancer development.