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 …

As genetic research into outcomes beyond health gathers pace, largely through the use of
genome-wide association studies, interest from policy-makers has grown. In the last year …

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 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 …

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 …

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

Background Although sociodemographic characteristics are associated with health
disparities, the relative predictive value of different social and demographic factors remains …