Precise patterns of gene expression in metazoans are controlled by three classes of
regulatory elements: promoters, enhancers and boundary elements. During differentiation …

Transcription factors (TFs) recognize specific DNA sequences to control chromatin and
transcription, forming a complex system that guides expression of the genome. Despite keen …

DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA,,,–and contain
genetic variations associated with diseases and phenotypic traits,–. We created high …

Combinatorial binding of transcription factors to regulatory DNA underpins gene regulation
in all organisms. Genetic variation in regulatory regions has been connected with diseases …

Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

Advances in the technologies and informatics used to generate and process large biological
data sets (omics data) are promoting a critical shift in the study of biomedical sciences. While …

Biological networks are powerful resources for the discovery of genes and genetic modules
that drive disease. Fundamental to network analysis is the concept that genes underlying the …

The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …

Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Horizontal integration of summary statistics from different GWAS traits can be used to
evaluate evidence for their shared genetic causality. One popular method to do this is a …