Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

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 …

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

We assembled the sequences from deep RNA sequencing experiments by the Genotype-
Tissue Expression (GTEx) project, to create a new catalog of human genes and transcripts …

Ontologies, Phenotypes, and Big Data Data-organizing methods have been in place for
centuries, but very large data sets have come into being relatively recently. The authors …

The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …

Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …