Considering the application of human genome variation databases in precision medicine,
population‐specific genome projects are continuously being developed. However, the …

The construction of population-based variomes has contributed substantially to our
understanding of the genetic basis of human inherited disease. Here, we investigated the …

Thousands of new experimental datasets are becoming available every day; in many cases,
they are produced within the scope of large cooperative efforts, involving a variety of …

Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

Lactase persistence (LP), the continued expression of lactase into adulthood, is the most
strongly selected single gene trait over the last 10,000 years in multiple human populations …

Backgrounds A large number of studies have investigated the effect of early menopause on
cardiovascular disease (CVD) outcomes and the relationship between the levels of lipid …

Modern European genetic structure demonstrates strong correlations with geography, while
genetic analysis of prehistoric humans has indicated at least two major waves of immigration …

The Middle East plays a major role in the history of genetic science. Early in the twentieth
century, technological breakthroughs in human genetics coincided with the birth of modern …

Background Juvenile idiopathic arthritis (JIA), is the most common pediatric rheumatologic
disorder with unknown etiology. Currently, no population-based data are available …

The diffusion of next-generation sequencing technologies has revolutionized research and
diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing …