The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

Recent research on disparate psychiatric disorders has implicated rare variants in genes
involved in global gene regulation and chromatin modification, as well as many common …

Large genome-mapping consortia and thousands of genome-wide association studies have
identified non-protein-coding elements in the genome as having a central role in various …

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

Although studies have identified hundreds of loci associated with human traits and diseases,
pinpointing causal alleles remains difficult, particularly for non-coding variants. To address …

Tissue-specific gene expression requires coordinated control of gene-proximal and-distal
cis-regulatory elements (CREs), yet functional analysis of gene-distal CREs such as …

Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …

Candidate enhancers can be identified on the basis of chromatin modifications, the binding
of chromatin modifiers and transcription factors and cofactors, or chromatin accessibility …

Most of the millions of SNPs in the human genome are non-coding, and many overlap with
putative regulatory elements. Genome-wide association studies (GWAS) have linked many …

Predicting the function of noncoding variation is a major challenge in modern genetics. In
this study, we used massively parallel reporter assays to screen 5706 variants identified …