Clinical measurements can be viewed as useful intermediate phenotypes to promote
understanding of complex human diseases. To acquire comprehensive insights into the underlying …

Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …

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

Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and
surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing …

Genome-wide association studies have identified >10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

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

The overwhelming majority of participants in current genetic studies are of European ancestry.
To elucidate disease biology in the East Asian population, we conducted a genome-wide …

Prostate cancer is a highly heritable disease with large disparities in incidence rates across
ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer …

Background Helicobacter pylori infection is a well-known risk factor for gastric cancer. However,
the contribution of germline pathogenic variants in cancer-predisposing genes and their …

Obesity is a risk factor for a wide variety of health problems. In a genome-wide association
study (GWAS) of body mass index (BMI) in Japanese people (n = 173,430), we found 85 loci …