Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Technological advances in genomics and imaging have led to an explosion of molecular
and cellular profiling data from large numbers of samples. This rapid increase in biological …

The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …

When identifying differentially expressed genes between two conditions using human
population RNA-seq samples, we found a phenomenon by permutation analysis: two …

More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

Improved understanding of genetic regulation of the proteome can facilitate identification of
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …

Autoimmune and inflammatory diseases are polygenic disorders of the immune system.
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …

Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

Identifying genetic variants associated with circulating protein concentrations (protein
quantitative trait loci; pQTLs) and integrating them with variants from genome-wide …