Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms
on the transcriptome. To investigate the genetics of gene expression, we performed cis…

While many disease-associated variants have been identified through genome-wide association
studies, their downstream molecular consequences remain unclear. To identify these …

Most disease-associated genetic variants are noncoding, making it challenging to design
experiments to understand their functional consequences 1 , 2 . Identification of expression …

Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology 1 , 2 . Expression quantitative trait loci (eQTLs) help to explain the …

Genome-wide association studies have identified hundreds of genetic variants associated
with blood pressure (BP), but sequence variation accounts for a small fraction of the …

We tested whether DNA-methylation profiles account for inter-individual variation in body
mass index (BMI) and height and whether they predict these phenotypes over and above …

Differentiated derivatives of human pluripotent stem cells in culture are generally
phenotypically immature compared to their adult counterparts. Their identity is often difficult to …

Genome-wide association and fine-mapping studies in 14 autoimmune diseases (AID) have
implicated more than 250 loci in one or more of these diseases. As more than 90% of AID-…

Acute myeloid leukemia (AML) is caused by genetic aberrations that also govern the prognosis
of patients and guide risk-adapted and targeted therapy. Genetic aberrations in AML are …

Background Previous studies have reported associations between attention-deficit/hyperactivity
disorder symptoms and DNA methylation in children. We report the first epigenome-wide …