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. 2018 Apr 30;29(1):4-14.
eCollection 2018 Apr.

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities

Chiara Di Resta  1   2 , Silvia Galbiati  2 , Paola Carrera  2   3 , Maurizio Ferrari  1   2   3
Affiliations

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities

Chiara Di Resta et al. EJIFCC. .

Abstract

The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue of NGS data analysis, as well as the interpretation of unknown genetic variants and the management of the incidental findings. Moreover, we focus the attention on the new professional figure of bioinformatics and the new role of medical geneticists in clinical management of patients. Furthermore, we consider some of the main clinical applications of NGS, taking into consideration that there will be a growing progress in this field in the forthcoming future.

Keywords: causative mutations; coverage; diagnostics; genetic medicine; genetics; incidental findings; inherited disorders; next generation sequencing; sequence depth; variants interpretation.

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Figures

Figure 1
Figure 1
Advantages and challenges of the use of gene panel NGS testing and WES So far the application of WES in clinical diagnostics presents more open challenges (B) than targeted sequencing (A).
See this image and copyright information in PMC

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