Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …

Purpose To evaluate the impact of technically challenging variants on the implementation,
validation, and diagnostic yield of commonly used clinical genetic tests. Such variants …

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for
the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and …

Current clinical laboratory practice guidelines for next-generation sequencing (NGS) do not
provide definitive guidance on confirming NGS variants. Sanger confirmation of NGS results …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

BACKGROUND Next-generation sequencing (NGS) data are used for both clinical care and
clinical research. DNA sequence variants identified using NGS are often returned to …

Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

Purpose Current diagnostic testing for genetic disorders involves serial use of specialized
assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all …

Next-generation sequencing (NGS) technologies have changed the landscape of genetic
testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its …