Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …

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 …

Sequencing the coding regions, the exome, of the human genome is one of the major
current strategies to identify low frequency and rare variants associated with human disease …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Whole exome sequencing presents a powerful tool to study rare genetic disorders. The most
challenging part of using exome sequencing for the purpose of disease-causing variant …

High-throughput sequencing has ushered in a diversity of approaches for identifying genetic
variants and understanding genome structure and function. When applied to individuals with …

Over the past decade, exome sequencing (ES) has allowed significant advancements to the
field of disease research. By targeting the protein-coding regions of the genome, ES …

The recent advent of next-generation sequencing technologies has dramatically changed
the nature of biomedical research. Human genetics is no exception-it has never been easier …

Purpose Diagnostic exome sequencing was immediately successful in diagnosing patients
in whom traditional technologies were uninformative. Herein, we provide the results from the …

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 …