Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …

Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk
globally. Large-scale schizophrenia genetic studies have reported primarily on European …

Ancient DNA makes it possible to observe natural selection directly by analysing samples
from populations before, during and after adaptation events. Here we report a genome-wide …

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Super-enhancers are large clusters of transcriptional enhancers that drive expression of
genes that define cell identity. Improved understanding of the roles that super-enhancers …

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 …

Humans differ in the outcome that follows exposure to life-threatening pathogens, yet the
extent of population differences in immune responses and their genetic and evolutionary …

With the completion of the human genome sequence, attention turned to identifying and
annotating its functional DNA elements. As a complement to genetic and comparative …