Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that
improvements in diagnostic yield can be made by systematically reanalyzing previously …

Background Health research increasingly relies on organized collections of health data and
biological samples. There are many types of sample and data collections that are used for …

As genetic testing technology has advanced, allowing scientists to obtain much of the raw
data from our DNA, their ability to interpret these data has struggled to keep up. The result is …

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 …

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

The nature of next generation sequencing technologies (NGS) results in the generation of
large amounts of data and the identification of numerous variants, for some of which the …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …

There are several key unsolved issues relating to the clinical use of next generation
sequencing, such as: should laboratories report variants of uncertain significance (VUS) to …

Technological advances have increased the availability of genomic data in research and the
clinic. If, over time, interpretation of the significance of the data changes, or new information …