Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

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 …

Recent advances in MS-based proteomics have vastly increased the quality and scope of
biological information that can be derived from human samples. These advances have …

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …

Limited translational genomic research data have been reported on the application of
exome sequencing and parallel gene testing for preconception carrier screening (PCS) …

Abstract The 100,000 Genomes Project is a hybrid clinical and research project in which
patients and parents are offered genome sequencing for cancer and rare and inherited …

ABSTRACT Purpose Secondary findings (SFs) are present in 1–4% of individuals
undergoing genome/exome sequencing. A review of how SFs are disclosed and what …

Actionability is an important concept in medicine that does not have a well-accepted
standard definition, nor is there a general consensus on how to establish it. Medical …

The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and
disease management. However, as research into its application in common, more complex …