Kyle Siebenthall

TL;DR: It is shown that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease.

TL;DR: These data represent an extensive catalogue of potential cis-regulatory elements within the CNS that display region and temporal specificity, as well as a set of DHSs common to CNS tissues that are likely to mark enhancers specific to each CNS region and developmental stage.

TL;DR: Evidence in humans of ACSL1 SNPs associated with fasting glucose, diabetes, and subclinical atherosclerosis is provided and links among these traits and acyl-CoA synthesis are suggested.

TL;DR: A powerful approach is demonstrated to functionally connect kidney disease-/trait-associated loci to their target genes by leveraging unique regulatory DNA maps and integrated epigenomic and genetic analysis and will enhance the understanding of genome regulation and its effects on gene expression in kidney disease.

TL;DR: Though HIF transcription factors play a cardinal role in RCC oncogenesis, it is found that numerous transcription factors with a RCC-selective expression pattern also demonstrated evidence of HIF binding near their gene body.