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 …

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

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 …

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) …

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 …

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

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 …

Cystic fibrosis (CF) is a severe genetic disorder that can cause multiple comorbidities
affecting the lungs, the pancreas, the luminal digestive system and beyond. In our previous …

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 …