This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Genomics is advancing towards data-driven science. Through the advent of high-throughput
data generating technologies in human genomics, we are overwhelmed with the heap of …

The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …

Despite rapid advances in sequencing technologies, accurately calling genetic variants
present in an individual genome from billions of short, errorful sequence reads remains …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an
emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of …

Improvement of variant calling in next-generation sequence data requires a comprehensive,
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …

Purpose Current clinical genomics assays primarily utilize short-read sequencing (SRS), but
SRS has limited ability to evaluate repetitive regions and structural variants. Long-read …

The cardiovascular research and clinical communities are ideally positioned to address the
epidemic of noncommunicable causes of death, as well as advance our understanding of …