David Leroy Veenstra

This paper identifies challenges faced by novice genomic researchers with bioinformatics tools and proposes an evaluation rubric to improve software usability.

SeqFirst-neo uses a genotype-driven workflow with broad exclusion criteria to increase access to rapid whole genome sequencing in critically ill newborns, significantly improving the rate and equity of precise genetic diagnoses.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.