Biobanks play an increasing role in contemporary research projects. These units meet all
requirements to regard them as a one of the most innovative and up-to-date in the field of …

Importance Large-scale DNA sequencing identifies incidental rare variants in established
Mendelian disease genes, but the frequency of related clinical phenotypes in unselected …

The evidence base supporting genetic and genomic sequence-variant interpretations is
continuously evolving. An inherent consequence is that a variant's clinical significance might …

Exome and whole-genome sequencing are rapidly moving into clinical application to aid
diagnosis and treatment. However, a startling statement by the American College of Medical …

The Partners HealthCare Biobank is a Partners HealthCare enterprise-wide initiative whose
goal is to provide a foundation for the next generation of translational research studies of …

Background Effective translational biomedical research hinges on the operation
of'biobanks,'repositories that assemble, store, and manage collections of human specimens …

Over 100 million research participants around the world have had research array-based
genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been …

An examination of a decade and a half of political controversy, ethical debate, and scientific
progress in stem cell research. After a decade and a half, human pluripotent stem cell …

Genome-and exome-sequencing costs are continuing to fall, and many individuals are
undergoing these assessments as research participants and patients. The issue of …

Health care is transitioning from genetics to genomics, in which single-gene testing for
diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other …