Association studies provide genome-wide information about the genetic basis of complex
disease, but medical research has focused primarily on protein-coding variants, owing to the …

Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants …

Reference genomes guide our interpretation of DNA sequence data. However, conventional
linear references represent only one version of each locus, ignoring variation in the …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …

RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing …

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an
association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching …

Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed
the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 …

Understanding the consequences of regulatory variation in the human genome remains a
major challenge, with important implications for understanding gene regulation and …

Allelic expression analysis has become important for integrating genome and transcriptome
data to characterize various biological phenomena such as cis-regulatory variation and …

We performed a meta-analysis of 14 genome-wide association studies of coronary artery
disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of …