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

How well do we understand the functions encoded by our genome? Certainly,
comprehensive functional informa tion about proteins, including the impact of mutations, is …

Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

The speed, accuracy, efficiency, and cost-effectiveness of DNA sequencing have been
improving continuously since the initial derivation of the technique in the mid-1970s. With …

We direct your readers' attention to the principles and guidelines (Supplementary
Guidelines) developed by the Next-generation Sequencing: Standardization of Clinical …

Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

Background Whole exome and genome sequencing (WES/WGS) is now routinely offered as
a clinical test by a growing number of laboratories. As part of the test design process each …

Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value
across a wide breadth of clinical disciplines. One barrier to widespread adoption is the …

Over the past decade, next-generation sequencing (NGS) has led to an exponential
increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for …