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Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing

Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics, allowing for the detection of sequence variants with so far unprecedented large scale, mainly in genetically heterogenous diseases, such as neurological disorders. It is a fast-moving field, where new we...

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Autores principales: Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996035/
https://www.ncbi.nlm.nih.gov/pubmed/32985468
http://dx.doi.org/10.4103/1673-5374.293135
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author Di Resta, Chiara
Pipitone, Giovanni Battista
Carrera, Paola
Ferrari, Maurizio
author_facet Di Resta, Chiara
Pipitone, Giovanni Battista
Carrera, Paola
Ferrari, Maurizio
author_sort Di Resta, Chiara
collection PubMed
description Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics, allowing for the detection of sequence variants with so far unprecedented large scale, mainly in genetically heterogenous diseases, such as neurological disorders. It is a fast-moving field, where new wet enrichment protocols and bioinformatics tools are constantly being developed to overcome initial limitations. Despite the as yet undiscussed advantages, however, there are still some challenges in data analysis and the interpretation of variants. In this review, we address the current state of next generation sequencing diagnostic testing for inherited human disorders, particularly giving an overview of the available high-throughput sequencing approaches; including targeted, whole-exome and whole-genome sequencing; and discussing the main critical aspects of the bioinformatic process, from raw data analysis to molecular diagnosis.
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spelling pubmed-79960352021-06-02 Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing Di Resta, Chiara Pipitone, Giovanni Battista Carrera, Paola Ferrari, Maurizio Neural Regen Res Review Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics, allowing for the detection of sequence variants with so far unprecedented large scale, mainly in genetically heterogenous diseases, such as neurological disorders. It is a fast-moving field, where new wet enrichment protocols and bioinformatics tools are constantly being developed to overcome initial limitations. Despite the as yet undiscussed advantages, however, there are still some challenges in data analysis and the interpretation of variants. In this review, we address the current state of next generation sequencing diagnostic testing for inherited human disorders, particularly giving an overview of the available high-throughput sequencing approaches; including targeted, whole-exome and whole-genome sequencing; and discussing the main critical aspects of the bioinformatic process, from raw data analysis to molecular diagnosis. Wolters Kluwer - Medknow 2020-09-22 /pmc/articles/PMC7996035/ /pubmed/32985468 http://dx.doi.org/10.4103/1673-5374.293135 Text en Copyright: © 2021 Neural Regeneration Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Review
Di Resta, Chiara
Pipitone, Giovanni Battista
Carrera, Paola
Ferrari, Maurizio
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title_full Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title_fullStr Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title_full_unstemmed Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title_short Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
title_sort current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996035/
https://www.ncbi.nlm.nih.gov/pubmed/32985468
http://dx.doi.org/10.4103/1673-5374.293135
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