Michael Brudno

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

The paper introduces OSMP, a tool for one-sided genomic matchmaking in rare disease patients, which efficiently filters variant occurrences to prioritize clinically relevant matches.

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.

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

CanDIG enables secure, federated genomic and health data analysis across jurisdictions while maintaining data locality and privacy.

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.

This paper introduces an unsupervised learning method to classify diseases using DNA methylation signatures, achieving high accuracy on known disorders and identifying a new subtype in autism.

The paper creates a quality-checked database of open chromatin regions from 828 DNase-I hypersensitive sequencing samples across 194 human cell types.