Roby Joehanes

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.

eQTM Atlas, an R Shiny resource, curates over 11 million DNA methylation-gene expression associations from eight cohorts and 11 tissues to annotate EWAS CpGs beyond proximity.

The paper identifies a genomic signature, G-tract-AG motifs, that regulates transcriptome integrity and diversity through repression of AG usage and SNV-induced splicing activation.

The paper identifies variance QTLs (vQTLs) and gene-environment interactions for body fat distribution using UK Biobank MRI and genetic data, with replication in external cohorts.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

The paper integrates DNA methylation with clinical risk factors to improve mortality prediction, identifying CpG biomarkers associated with all-cause, cardiovascular, and cancer mortality.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper examines gene expression in blood cells linked to sleep apnea traits, identifying CD1D and RAB20 expression changes reversed by CPAP treatment.

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.

This study identifies genetic variants associated with epigenetic age acceleration and shows TERT's role in regulating the DNA methylation clock.