Implementation of Exome Sequencing Assay

摘要: Next-generation sequencing (NGS) is driving our current approaches to molecular diagnosis and the characterization of genetic disorders. The arrival NGS platforms has made whole-exome (WES) possible, leading tremendous improvements in technology, throughput, cost, efficiency variant detection disease diagnosis. This turn brought a paradigm shift clinical medical genetics. WES whole-genome (WGS) are fast becoming affordable, one-for-all tests entering genetics arena. In this chapter, we summarize evolving roles WES, which range from its use as diagnostic tool for rare single-gene Mendelian disorders, routine screening monitoring progression treatment response cancer patients, well novel gene discovery research setting. chapter highlights achievements limitations technology emphasizes challenges involved implementation assays care.