GENETICS IN ENDOCRINOLOGY Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks

被引：19

作者：

Persani, Luca ^{[1
,2
]}

de Filippis, Tiziana ^{[2
]}

Colombo, Carla ^{[2
]}

Gentilini, Davide ^{[3
,4
]}

机构：

[1] Univ Milan, Dept Clin Sci & Community Hlth, Milan, Italy

[2] IRCCS Ist Auxol Italiano, Lab Endocrine & Metab Res, Milan, Italy

[3] IRCCS Ist Auxol Italiano, Lab Mol Biol Res, Milan, Italy

[4] Univ Pavia, Pavia, Italy

来源：

EUROPEAN JOURNAL OF ENDOCRINOLOGY | 2018年 / 179卷 / 03期

关键词：

CONGENITAL HYPOGONADOTROPIC HYPOGONADISM; GENERATION SEQUENCING ASSAY; THYROID-NODULES; ADRENOCORTICAL CARCINOMA; GERMLINE MUTATIONS; RARE VARIANTS; EXOME; PHEOCHROMOCYTOMA; ASSOCIATION; GUIDELINES;

D O I：

10.1530/EJE-18-0379

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The technological advancements in genetics produced a profound impact on the research and diagnostics of non-communicable diseases. The availability of next-generation sequencing (NGS) allowed the identification of novel candidate genes but also an in-depth modification of the understanding of the architecture of several endocrine diseases. Several different NGS approaches are available allowing the sequencing of several regions of interest or the whole exome or genome (WGS, WES or targeted NGS), with highly variable costs, potentials and limitations that should be clearly known before designing the experiment. Here, we illustrate the NGS scenario, describe the advantages and limitations of the different protocols and review some of the NGS results obtained in different endocrine conditions. We finally give insights on the terminology and requirements for the implementation of NGS in research and diagnostic labs.

引用

页码：R111 / R123

页数：13

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