Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …

We report principles and guidelines (Supplementary Note) that were developed by the Next-
Generation Sequencing: Standardization of Clinical Testing II (Nex-StoCT II) informatics …

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 …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other health-care providers to help them provide quality medical …

Implementation of next-generation DNA sequencing (NGS) technology into routine
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

In the years since the first complete human genome sequence was reported, there has been
a rapid development of technologies to facilitate high-throughput sequence analysis of DNA …

Purpose: Sanger sequencing is currently considered the gold standard methodology for
clinical molecular diagnostic testing. However, next-generation sequencing has already …

Background Detecting mutations in disease genes by full gene sequence analysis is
common in clinical diagnostic laboratories. Sanger dideoxy terminator sequencing allows for …