Freida Blostein

Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record

The paper identifies sex-specific genetic loci for clinical traits using EHR data, finding that differential effect magnitudes, not opposing effects, dominate sex-specific genetic architecture.

Common variant approaches to study Mendelian disease gene function identify novel phenome and pathways associated with PLOD3

Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare

This study sequenced 35,024 individuals with predominantly African ancestry to address gaps in genomics and healthcare, finding under-documented disease variants and novel associations with drug adverse events and glycemic control.

GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.