Kevin K. Nguyen

The paper identifies elevated polyadenylated histone gene transcription in human cancers, showing it is prevalent across diverse tumor types and linked to RNAPII stabilization.

This study identifies aclarubicin's mechanism of action by showing it disrupts RNA polymerase II progression at replication-coupled histone genes, leading to chromatin damage.

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

seqr is a web-based tool for analyzing rare disease genomic data, enabling variant filtering, annotation, and collaboration, with over 10,000 families analyzed and 300 novel disease genes discovered.

The paper uses Diversity Outbred mice to analyze bone traits and identify novel genes associated with bone strength, informing human GWAS findings.