Genomic Applications in Inherited Genetic Disorders

摘要: Next-generation sequencing (NGS) technology has revolutioned clinical diagnostics for inherited disorders. The paradigm shift driven by NGS is rooted in its fundamental advances over Sanger sequencing, primarily ultrahigh throughput and significantly lower cost per base of sequence. These enhanced capabilities have enabled laboratories to go from testing single genes simultaneously tens, hundreds, thousands genes, even the whole human genome. This dramatic leap yielded success stories but also accompanied numerous new challenges that will face field years come. Despite relatively recent emergence, become primary diagnostic methodology academic commercial laboratories, which are continuing expand applications this at a rapid pace. Indeed, it clear NGS-based genetic tests applicable inherit disorders all stages life, preconception carrier screening diagnosis fetal, infant, young child, adult-onset chapter presents brief description panels, exome, whole-genome germline variations discusses their current applications.