Characterizing natural selection signatures and relationships with phenotype spectra is
important for understanding human evolution and both biological and pathological …

Objectives Genome-wide meta-analyses of clinically defined gout were performed to identify
subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these …

We generated Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library
(JEWEL), a high-depth whole-genome sequencing dataset comprising 3256 individuals …

An East Asian–specific variant on aldehyde dehydrogenase 2 (ALDH2 rs671, G> A) is the
major genetic determinant of alcohol consumption. We performed an rs671 genotype …

The current genome-wide association studies (GWASs) do not yet capture sufficient diversity
in terms of populations and scope of phenotypes. To address an essential need to expand …

Over the past few years several methodological and data-driven advances have greatly
improved our ability to robustly detect genomic signatures of selection in humans. New …

Causal inference is one of the challenges in epidemiologic studies. Gynecologic diseases
have been reported to have association with obesity, however the causality remained …

The genetic landscape of mitochondrial DNA (mtDNA) has been elusive. By analyzing
mtDNA using the whole genome sequence (WGS) of Japanese individuals (n= 1928), we …

Background Some patients with inflammatory bowel disease (IBD) who were under
mesalamine treatment develop adverse reactions called “mesalamine allergy,” which …

Elucidation of natural selection signatures and relationships with phenotype spectra is
important to understand adaptive evolution of modern humans. Here, we conducted a …