Gout is the most common form of inflammatory arthritis and is a multifactorial disease
typically characterized by hyperuricemia and monosodium urate crystal deposition …

Aldehyde dehydrogenases engage in many cellular functions, however their dysfunction
resulting in accumulation of their substrates can be cytotoxic. ALDHs are responsible for the …

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

Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …

Background Sequence variants, including the ε4 allele of apolipoprotein E, have been
associated with the risk of the common late-onset form of Alzheimer's disease. Few rare …

Mutations generate sequence diversity and provide a substrate for selection. The rate of de
novo mutations is therefore of major importance to evolution. Here we conduct a study of …

The prevalence of dementia in the Western world in people over the age of 60 has been
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …

A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to
the formation of monosodium urate crystals. The clinical features of gout result from an …