Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …

The rapid expansion of next‐generation sequencing has yielded a powerful array of tools to
address fundamental biological questions at a scale that was inconceivable just a few years …

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

We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

We present an individualized systems medicine (ISM) approach to optimize cancer drug
therapies one patient at a time. ISM is based on (i) molecular profiling and ex vivo drug …

Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

Environmental DNA (eDNA) extracted from water samples has recently shown potential as a
valuable source of population genetic information for aquatic macroorganisms. This …

The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …

The completion of a reference genome sequence for humans took more than 200 scientists
more than a decade in a project that cost almost $3 billion to complete (International Human …