Deborah A. Meyers

TorchGWAS2 improves genome-wide association testing in related samples by using a deterministic variance-correction algorithm, achieving faster and more powerful results across large-scale omics data.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

The paper analyzes circulating metabolites using genome-wide association data from the TOPMed program, identifying 1,778 loci and highlighting sex-specific genetic contributions.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

This study shows that proteomic data can be linked to specific genomes using pQTL knowledge, highlighting privacy risks and the need for protections similar to genomic data.

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

The paper identifies germline genetic variants associated with clonal hematopoiesis of indeterminate potential (CHIP) using whole genome sequences from the TOPMed program.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

This study identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.