Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...

PURPOSE OF REVIEW The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care. RECENT FINDINGS Advances in instrumentation have dramatically reduced the cost of DNA sequencing. An individual's entire genome ...

Since the first bacterial genome, Haemophilus influenzae, was fully sequenced in 1995, over 1000 complete bacterial genome sequences have been determined. DNA sequencing technology has dramatically improved from the first generation, automated Sanger DNA sequencing, which dominated this field for almost two decades, to the current Nextgeneration sequencing protocols. This newer technology drama...

The motivation for sequencing genomes is rather direct. According to the central dogma of biology, elements of the genome are translated via several mechanisms into the structure and function of organisms. But in order to study genomes, we must first sequence them. Whole Genome Shotgun (WGS) is a successful method for sequencing genomes. This lecture we will discuss how WGS works, some of the c...