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

Clinical Next-Generation Sequencing—A Wild Frontier The technologies and chemistries
underlying next-generation sequencing of DNA are evolving rapidly. This review describes …

Purpose: The purpose of this study was to assess the diagnostic yield of the traditional,
comprehensive clinical evaluation and targeted genetic testing, within a general genetics …

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 …

We are entering an era in which the cost of clinical whole-genome and targeted sequencing
tests is no longer prohibitive to their application. However, currently the infrastructure is not …

Context Although next-generation sequencing (NGS) can revolutionize molecular
diagnostics, several hurdles remain in the implementation of this technology in clinical …

Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …

The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

Next‐generation sequencing (NGS) methods are being adopted by genome diagnostics
laboratories worldwide. However, implementing NGS‐based tests according to diagnostic …

Background Genetic testing in inherited disease has traditionally relied upon recognition of
the presenting clinical syndrome and targeted analysis of genes known to be linked to that …