Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and
levels of mtDNA-CN have been reproducibly associated with overall mortality and a number …

Blood pressure is a heritable trait 1 influenced by several biological pathways and responsive
to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm …

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …

… 4 reported an excess of large de novo copy-number variants, … Although these data imply a
role for de novo copy-number … a screening technique for recurrent de novo autosomal copy-…

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease.
We report the largest genetic association study of blood pressure traits (systolic, diastolic …

The p53 tumor suppressor protein is a critical regulator of the cellular response to cancer-initiating
insults such as genotoxic stress. In this report, we demonstrate that microRNAs (…

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Intelligence is highly heritable 1 and a major determinant of human health and well-being 2
. Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in …

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies
have identified common CKD susceptibility variants. The CKDGen consortium performed …

Marfan syndrome is an autosomal dominant disorder of connective tissue caused by
mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of …