Matthew R.G. Taylor

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.

This study identifies an EZH2 variant associated with immunodeficiency and shows it impairs PRC2 function by disrupting H3K27me3 methylation at specific genomic regions.

The paper integrates genomics and transcriptomics data from human heart samples to identify regulatory mechanisms linking genetic variation to dilated cardiomyopathy.

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

The paper identifies CaMKIIδ-B subcellular localization as a determinant of myocardial recovery in heart failure, showing cytoplasmic retention impairs recovery.

Summix2 uses mixture modeling to estimate and adjust for substructure in genetic summary data, improving the robustness and equity of research using diverse datasets.

The paper describes the CCPM Biobank, a dual-purpose genomic resource linking health records and genomic data to support research and clinical applications.