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 …

Background Exome sequencing has advanced to clinical practice and proven useful for
obtaining molecular diagnoses in rare diseases. In approximately 75% of cases, however, a …

Whole exome sequencing, owing to its low cost and computational burden, has become the
standard for causal gene detection in disease and treatment management. This article …

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 …

Disease gene discovery has been transformed by affordable sequencing of exomes and
genomes. Identification of disease‐causing mutations requires sifting through a large …

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

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

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 …