Genome-wide association studies (GWAS) have identified common variants of modest-effect
size at hundreds of loci for common autoimmune diseases; however, a substantial fraction of …

Genome-wide association studies have identified loci underlying human diseases, but the
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …

Most disease associations detected by genome-wide association studies (GWAS) lie outside
coding genes, but very few have been mapped to causal regulatory variants. Here, we …

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 …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …

There is increasing evidence that genome-wide association (GWA) studies represent a
powerful approach to the identification of genes involved in common human diseases. We …

Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …

Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …

The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …