Vardhman K. Rakyan

Short-read genomes can flag Robertsonian translocation carriers by counting rDNA distal junction (DJ) copies (8 rather than 10); UK Biobank screening found 583 candidates, 1 in 841.

The paper identifies rDNA sequence variants associated with human traits using UK Biobank data, finding enrichment in body size traits within the 28S rRNA Expansion Segment 15L region.

The paper identifies an association between ribosomal DNA copy number and body mass in humans and rats, showing it relates to growth rate and BMI but not obesity.

This study investigates whether donor DNA methylation can predict acute graft-versus-host disease (aGVHD) in HCT, finding that a classifier developed from methylation data failed to validate in an independent cohort.

This study investigates how hemin availability affects DNA methylation and gene expression in Porphyromonas gingivalis, identifying coordinated changes in six genes related to virulence.

This study shows that genetic variation in rDNA affects epigenetic states and rRNA expression in mice and humans, with species-specific patterns observed.

The paper examines DNA methylation differences between human blood and sperm, finding limited correlation and no significant obesity-related changes in sperm methylation.

BulkVis visualizes Oxford Nanopore bulk fast5 files to inspect signal data and identify incorrectly split long reads.

The paper integrates chromatin accessibility and DNA methylation data from human pancreatic islets to refine regulatory mechanisms at Type 2 Diabetes susceptibility loci.