Joshua J. McElwee

Genetically determining individualized clinical reference ranges for the biomarker tryptase can limit unnecessary procedures and unmask myeloid neoplasms

This study determines individualized tryptase reference ranges by modeling BST levels based on TPSAB1 copy number, showing that elevated levels can indicate clonal myeloid neoplasms or be normal in HT carriers.

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

The paper uses PheWAS across large cohorts to identify genetic associations with drug targets and predict drug safety and efficacy.