Today, whole-exome sequencing (WES) is used to conduct the massive screening of
structural and regulatory genes in order to identify the allele frequencies of disease …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Beginning in 2009, the advent of exome sequencing has contributed significantly towards
new discoveries of heritable germline mutations and de novo mutations for rare Mendelian …

The recent development of high throughput methods of deoxyribonucleic acid (DNA)
sequencing has made it possible to determine individual genome sequences and their …

In the relatively short time frame since the introduction of next generation sequencing, it has
become a method of choice for complex genomic research studies. As a paradigm shifting …

There is a growing attention toward personalized medicine. This is led by a fundamental
shift from the 'one size fits all'paradigm for treatment of patients with conditions or …

During the past ten years the field of human disease genetics has made major leaps,
including the completion of the Human Genome Project, the HapMap Project, the …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Precision Medicine emerges from the genomic paradigm of health and disease. For precise
molecular diagnoses of genetic diseases, we must analyze the Whole Exome (WES) or the …