Bala Bharathi Burugula

This study uses multiple functional genomic approaches to identify and characterize cis-regulatory elements (CREs) influencing LDLR expression, revealing overlapping yet distinct CREs across methods.

The paper identifies known and novel splicing-disruptive variants in WT1 exon 9 using high-throughput assays, finding 16 new variants and 19 variants increasing the KTS+/KTS- ratio.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

The paper develops a cost-effective sequencing assay to detect clonal hematopoiesis and shows that most clonal mutations expand over time in longitudinal samples.

The paper functionally tests MSH2 missense variants to determine their impact on Lynch Syndrome risk, finding most are neutral and providing a comprehensive functional map.