PDF(Pubmed)
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.
摘要：
下一代测序（NGS）在临床实验室中的快速发展和广泛使用使几种遗传性疾病的遗传诊断取得了令人难以置信的进展。然而,新技术带来了新的挑战。在这篇综述中，我们考虑了NGS数据分析的重要问题，以及未知遗传变异的解释和附带发现的管理。此外，我们将注意力集中在生物信息学的新专业人物和医学遗传学家在患者临床管理中的新角色上。此外，我们考虑NGS的一些主要临床应用，考虑到在即将到来的未来，这一领域将取得越来越大的进展。
