During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

Genome-wide association studies have identified breast cancer risk variants in over 150
genomic regions, but the mechanisms underlying risk remain largely unknown. These …

Enhancer elements function as the logic gates of the genetic regulatory circuitry. One of their
most important functions is the integration of extracellular signals with intracellular cell fate …

Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

Background Genome-wide association studies (GWAS) have identified 94 common single-
nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 …

Endometriosis is a heritable hormone-dependent gynecological disorder, associated with
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men.
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …

Breast cancer is the most common cancer among women in the United States, with up to
30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the …

With decades of electronic health records linked to genetic data, large biobanks provide
unprecedented opportunities for systematically understanding the genetics of the natural …