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.

Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks / L. Persani, T. de Filippis, C. Colombo, D. Gentilini. - In: EUROPEAN JOURNAL OF ENDOCRINOLOGY. - ISSN 0804-4643. - 179:3(2018 Sep), pp. R111-R123.

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

L. Persani
Primo
Writing – Review & Editing
;
C. Colombo
Penultimo
Writing – Original Draft Preparation
;
2018

Abstract

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.
Congenital hypogonadotropic hypogonadism; generation sequencing assay; thyroid nodules; adrenocortical carcinoma; germline mutations; rare variants; exome; pheochromotytoma; association; guidelines
Settore MED/13 - Endocrinologia
Settore MED/03 - Genetica Medica
set-2018
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/587000
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