Long-read DNA sequencing technologies have been rapidly evolving in recent years, and
their ability to assess large and complex regions of the genome makes them ideal for clinical …

Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

Genome-wide association analyses using high-throughput metabolomics platforms have led
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …

Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses,
revealing mutational signatures, imprints of DNA damage, and repair processes that have …

Precision medicine promises improved health by accounting for individual variability in
genes, environment, and lifestyle. Precision medicine will continue to transform healthcare …

Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

Most people with intellectual disability (ID) do not receive a molecular diagnosis following
genetic testing. To identify new etiologies of ID, we performed a genetic association analysis …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …