Opportunities and challenges of whole-genome and -exome sequencing

Fredrich, Broder; Petersen, Britt-Sabina; Hoeppner, Marc P.; Ellinghaus, David; Franke, Andre

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Opportunities and challenges of whole-genome and -exome sequencing

Journal article published in 2017 by Broder Fredrich, Britt-Sabina Petersen

, Marc P. Hoeppner, David Ellinghaus, Andre Franke

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Abstract

Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example. We focus on the opportunities, but also challenges that researchers are facing when working with NGS data to unravel the genetic causes underlying diseases.