All content for this collection of essays has been chosen by the editors of Nature Reviews Genetics, and the collection has been made freely available for 6 months thanks to support from Life Technologies, a brand of Thermo Fisher Scientific.

Abstract

Translating the power of high-throughput sequencing technologies from the research sphere into the clinic is a current major focus for many health-care providers and researchers, and the power of these technologies is being harnessed to address an increasingly diverse range of problems. Excitingly, real benefits for patients are starting to emerge. The scale and efficiency of sequencing that can now be achieved is providing unprecedented progress in areas from infectious disease and cancer, to common and rare genetic disorders and pre-natal testing.

High-profile successes in the application of next-generation sequencing in the clinic include using sequencing to follow the spread of infections, and uncovering the genetic basis of inherited diseases, such as the molecular mechanisms underlying renal developmental disorders and ciliopathies. In addition, sequencing is informing clinical diagnostics and could be used to classify cancer sub-types for appropriate therapies.

We are at an exciting time in genomics when, after years of studies amassing a wealth of information on the genetic susceptibility to disease, decisive steps can be taken towards translating these findings to clinical care. At this critical turning point, this collection highlights the breadth of applications of next-generation sequencing technologies in the clinic and the importance of the insights that are being gained through these methods to improve health.

Click here for the collection webpage.