This article reviews basic concepts, general applications, and the potential impact of next-
generation sequencing (NGS) technologies on genomics, with particular reference to …

The development of massively parallel sequencing technologies, coupled with new
massively parallel DNA enrichment technologies (genomic capture), has allowed the …

Motivation: The ability to detect copy-number variation (CNV) and loss of heterozygosity
(LOH) from exome sequencing data extends the utility of this powerful approach that has …

Genome targeting methods enable cost-effective capture of specific subsets of the genome
for sequencing. We present here an automated, highly scalable method for carrying out the …

We performed genetic and immunohistochemical studies in a sister and brother with
autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly …

Hearing loss is the most common form of sensory impairment in humans and affects more
than 40 million people in the United States alone. No drug-based therapy has been …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-
disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an …

Massively parallel sequencing of targeted regions, exomes, and complete genomes has
begun to dramatically increase the pace of discovery of genes responsible for human …

Background Enrichment of loci by DNA hybridization-capture, followed by high-throughput
sequencing, is an important tool in modern genetics. Currently, the most common targets for …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …