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NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders
BACKGROUND: Neurological disorders are a highly heterogeneous group of pathological conditions that affect both the peripheral and the central nervous system. These pathologies are characterized by a complex and multifactorial etiology involving numerous environmental agents and genetic susceptibili...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128384/ https://www.ncbi.nlm.nih.gov/pubmed/30258275 http://dx.doi.org/10.2174/1389202919666180404105451 |
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author | La Cognata, Valentina Morello, Giovanna Gentile, Giulia Cavalcanti, Francesca Cittadella, Rita Conforti, Francesca Luisa De Marco, Elvira Valeria Magariello, Angela Muglia, Maria Patitucci, Alessandra Spadafora, Patrizia D’Agata, Velia Ruggieri, Martino Cavallaro, Sebastiano |
author_facet | La Cognata, Valentina Morello, Giovanna Gentile, Giulia Cavalcanti, Francesca Cittadella, Rita Conforti, Francesca Luisa De Marco, Elvira Valeria Magariello, Angela Muglia, Maria Patitucci, Alessandra Spadafora, Patrizia D’Agata, Velia Ruggieri, Martino Cavallaro, Sebastiano |
author_sort | La Cognata, Valentina |
collection | PubMed |
description | BACKGROUND: Neurological disorders are a highly heterogeneous group of pathological conditions that affect both the peripheral and the central nervous system. These pathologies are characterized by a complex and multifactorial etiology involving numerous environmental agents and genetic susceptibility factors. For this reason, the investigation of their pathogenetic basis by means of traditional methodological approaches is rather arduous. High-throughput genotyping technologies, including the microarray-based comparative genomic hybridization (aCGH), are currently replacing classical detection methods, providing powerful molecular tools to identify genomic unbalanced structural rearrangements and explore their role in the pathogenesis of many complex human diseases. METHODS: In this report, we comprehensively describe the design method, the procedures, validation, and implementation of an exon-centric customized aCGH (NeuroArray 1.0), tailored to detect both single and multi-exon deletions or duplications in a large set of multi- and monogenic neurological diseases. This focused platform enables a targeted measurement of structural imbalances across the human genome, targeting the clinically relevant genes at exon-level resolution. CONCLUSION: An increasing use of the NeuroArray platform may offer new insights in investigating potential overlapping gene signatures among neurological conditions and defining genotype-phenotype relationships. |
format | Online Article Text |
id | pubmed-6128384 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Bentham Science Publishers |
record_format | MEDLINE/PubMed |
spelling | pubmed-61283842019-03-01 NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders La Cognata, Valentina Morello, Giovanna Gentile, Giulia Cavalcanti, Francesca Cittadella, Rita Conforti, Francesca Luisa De Marco, Elvira Valeria Magariello, Angela Muglia, Maria Patitucci, Alessandra Spadafora, Patrizia D’Agata, Velia Ruggieri, Martino Cavallaro, Sebastiano Curr Genomics Article BACKGROUND: Neurological disorders are a highly heterogeneous group of pathological conditions that affect both the peripheral and the central nervous system. These pathologies are characterized by a complex and multifactorial etiology involving numerous environmental agents and genetic susceptibility factors. For this reason, the investigation of their pathogenetic basis by means of traditional methodological approaches is rather arduous. High-throughput genotyping technologies, including the microarray-based comparative genomic hybridization (aCGH), are currently replacing classical detection methods, providing powerful molecular tools to identify genomic unbalanced structural rearrangements and explore their role in the pathogenesis of many complex human diseases. METHODS: In this report, we comprehensively describe the design method, the procedures, validation, and implementation of an exon-centric customized aCGH (NeuroArray 1.0), tailored to detect both single and multi-exon deletions or duplications in a large set of multi- and monogenic neurological diseases. This focused platform enables a targeted measurement of structural imbalances across the human genome, targeting the clinically relevant genes at exon-level resolution. CONCLUSION: An increasing use of the NeuroArray platform may offer new insights in investigating potential overlapping gene signatures among neurological conditions and defining genotype-phenotype relationships. Bentham Science Publishers 2018-09 2018-09 /pmc/articles/PMC6128384/ /pubmed/30258275 http://dx.doi.org/10.2174/1389202919666180404105451 Text en © 2018 Bentham Science Publishers https://creativecommons.org/licenses/by-nc/4.0/legalcode This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/legalcode), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited. |
spellingShingle | Article La Cognata, Valentina Morello, Giovanna Gentile, Giulia Cavalcanti, Francesca Cittadella, Rita Conforti, Francesca Luisa De Marco, Elvira Valeria Magariello, Angela Muglia, Maria Patitucci, Alessandra Spadafora, Patrizia D’Agata, Velia Ruggieri, Martino Cavallaro, Sebastiano NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title |
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title_full |
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title_fullStr |
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title_full_unstemmed |
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title_short |
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders |
title_sort | neuroarray: a customized acgh for the analysis of copy number variations in neurological disorders |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128384/ https://www.ncbi.nlm.nih.gov/pubmed/30258275 http://dx.doi.org/10.2174/1389202919666180404105451 |
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