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

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its
second funding cycle, is investigating the effectiveness of integrating genomic (exome or …

Genome-wide sequencing (GWS) is the most sensitive test available for detecting
pathogenic genetic variants. In line with guidelines in North America and Europe, best …

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing
the scope of practice for clinical geneticists. Many large institutions are making a significant …

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

The advancement of precision medicine requires new methods to coordinate and deliver
genetic data from heterogeneous sources to physicians and patients. The eMERGE III …

Clinical and research settings are increasingly incorporating genomic sequencing (GS)
technologies. Previous research has explored reasons for declining genetic testing and …

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

Next generation sequencing (NGS) is dramatically increasing the number of clinically
available genetic tests and thus the number of patients in which such testing may be …

The development of massively parallel sequencing (or next-generation sequencing) has
facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic …