Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

A revised diagnostic algorithm provides guidelines for the diagnosis of patients with
suspected pulmonary hypertension, both prior to and following referral to expert centres, and …

Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …

Since 2000 there have been major advances in our understanding of the genetic and
genomics of pulmonary arterial hypertension (PAH), although there remains much to …

Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

There is a genetic component to human obesity that accounts for 40% to 50% of the
variability in body weight status but that is lower among normal weight individuals (about …

Pulmonary arterial hypertension (PAH) is a rare, progressive disorder typified by occlusion
of the pulmonary arterioles owing to endothelial dysfunction and uncontrolled proliferation of …

Since the 1st World Symposium on Pulmonary Hypertension (WSPH) in 1973, pulmonary
hypertension (PH) has been arbitrarily defined as mean pulmonary arterial pressure …