Angela Yen

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: In this article, the authors describe the integrative analysis of 111 reference human epigenomes generated as part of the NIH Roadmap Epigenomics Consortium, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression.

TL;DR: It is shown that incomplete XCI affects at least 23% of X-chromosomal genes, identified seven genes that escape XCI with support from multiple lines of evidence and demonstrated that escape from XCI results in sex biases in gene expression, establishing incomplete X CI as a mechanism that is likely to introduce phenotypic diversity.

TL;DR: One candidate nonsynonymous variant in Toll-like receptor 5 (TLR5) is experimentally characterized and it is shown that it leads to altered NF-κB signaling in response to bacterial flagellin.

TL;DR: In this paper, the authors show that BRCA1 is recruited to R-loops that form normally over a subset of transcription termination regions, where it mediates the recruitment of a specific, physiological binding partner, senataxin.