Theron Palmer

This study shows that using graph-based pangenomes and inferred donor-specific assemblies improves somatic variant detection compared to GRCh38.

The paper develops a pangenomic method to create a benchmark resource for somatic variant detection using HapMap mixtures, identifying millions of variants across different genomic regions.

Tranquillyzer is a deep learning framework for processing long-read single-cell RNA-seq data, enabling accurate identification of structural elements and demultiplexing despite sequencing errors and library variability.