Technological advances often outpace our ability to effec-tively use them, a situation that
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

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 …

Bioinformatics pipelines are an integral component of next-generation sequencing (NGS).
Processing raw sequence data to detect genomic alterations has significant impact on …

Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with
rare disease. However, there are barriers to its widespread adoption, including a lack of …

Introduction The issue of incidental findings in genomics research has been contentious,
particularly in whole genome sequencing (WGS) and whole exome sequencing (WES). An …

The huge parallel sequencing capabilities of next generation sequencing technologies have
made them the tools of choice to characterize genomic aberrations for research and …

High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …

Orthogonal confirmation of next-generation sequencing (NGS)-detected germline variants is
standard practice, although published studies have suggested that confirmation of the …

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