In recent years, the advent of new experimental methodologies for studying the high
complexity of the human genome and proteome has led to the generation of an increasing …

Enhancers are important genomic regulatory elements directing cell type-specific
transcription. They assume a key role during development and disease, and their …

Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large
genetically informative cohorts of individuals with ASD have led to the identification of a …

A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

Genetic variants associated with common diseases are usually located in noncoding parts of
the human genome. Delineation of the full repertoire of functional noncoding elements …

Super enhancers (SEs) are large clusters of adjacent enhancers that drive the expression of
genes which regulate cellular identity; SE regions can be enriched with a high density of …

Background Genome-wide quantification of enhancer activity in the human genome has
proven to be a challenging problem. Recent efforts have led to the development of powerful …

The most stable structure of DNA is the canonical right-handed double helix termed B DNA.
However, certain environments and sequence motifs favor alternative conformations, termed …

Gene transcription is a highly regulated process in all animals. In Drosophila, two major
transcriptional programs, housekeeping and developmental, have promoters with distinct …