Ira M Hall

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

This study identifies structural variants (SVs) as significant contributors to gene expression, finding they are more frequent causal variants than previously estimated and have larger effect sizes.

SVScore predicts the functional impact of structural variations using aggregated pathogenicity scores, showing it identifies deleterious variants better than alternative methods.

SpeedSeq reduces genome analysis time to under 24 hours using a single low-cost server, enabling faster clinical applications like cancer profiling and newborn diagnosis.