Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Twin studies suggest a considerable genetic contribution to the variability in 25-
hydroxyvitamin D (25 (OH) D) concentrations, reporting heritability estimates up to 80% in …

Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Importance Hidradenitis suppurativa (HS) is a common and severely morbid chronic
inflammatory skin disease that is reported to be highly heritable. However, the genetic …

Current publicly available tools that allow rapid exploration of linkage disequilibrium (LD)
between markers (eg, HaploReg and LDlink) are based on whole-genome sequence (WGS) …

Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus
only on participants with distinct primary continental ancestry without accommodating …

Understanding the genetic basis of routinely-acquired blood tests can provide insights into
several aspects of human physiology. We report a genome-wide association study of 42 …

Polygenic scores (PGS) can identify individuals at risk of adverse health events and guide
genetics-based personalized medicine. However, it is not clear how well PGS translate …

Metabolites are key indicators of health and therapeutic targets, but their genetic
underpinnings during pregnancy—a critical period for human reproduction—are largely …

Sickle cell disease (SCD) is the most-common monogenic recessive disease in humans,
annually affecting almost 300,000 newborns worldwide, 75% of whom live in Africa …