Digna R. Velez Edwards

TRACE uses a fine-tuned biomedical language model to identify drug-gene pairs from TWAS data, achieving high recovery rates in validation studies.

This study identifies 21 novel genetic loci associated with keloids through a multi-ancestry GWAS, highlighting integrin signaling and fibrosis pathways.

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

This study investigates the association between polygenic risk scores for blood pressure traits and preeclampsia, finding shared genetic architecture but no improvement in prediction models.

This study examines how sex influences the genetic risk of PCOS on metabolic traits using polygenic risk scores and EHR data.

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.

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper examines how changes in genetic admixture over time affect heterozygosity and health outcomes in a southeastern U.S. population.

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.