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Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors tens of thousands of structural variants (SVs). Since these SVs primarily impact noncoding DNA sequences, the next challenge is one of interpretation,...

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Autores principales: D’haene, Eva, Vergult, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790743/
https://www.ncbi.nlm.nih.gov/pubmed/32973355
http://dx.doi.org/10.1038/s41436-020-00974-1
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author D’haene, Eva
Vergult, Sarah
author_facet D’haene, Eva
Vergult, Sarah
author_sort D’haene, Eva
collection PubMed
description The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors tens of thousands of structural variants (SVs). Since these SVs primarily impact noncoding DNA sequences, the next challenge is one of interpretation, not least to improve our understanding of human disease etiology. However, this task is severely complicated by the intricacy of the gene regulatory landscapes embedded within these noncoding regions, their incomplete annotation, as well as their dependence on the three-dimensional (3D) conformation of the genome. Also in the context of neurodevelopmental disorders (NDDs), reports of putatively causal, noncoding SVs are accumulating and understanding their impact on transcriptional regulation is presenting itself as the next step toward improved genetic diagnosis.
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spelling pubmed-77907432021-01-15 Interpreting the impact of noncoding structural variation in neurodevelopmental disorders D’haene, Eva Vergult, Sarah Genet Med Review Article The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors tens of thousands of structural variants (SVs). Since these SVs primarily impact noncoding DNA sequences, the next challenge is one of interpretation, not least to improve our understanding of human disease etiology. However, this task is severely complicated by the intricacy of the gene regulatory landscapes embedded within these noncoding regions, their incomplete annotation, as well as their dependence on the three-dimensional (3D) conformation of the genome. Also in the context of neurodevelopmental disorders (NDDs), reports of putatively causal, noncoding SVs are accumulating and understanding their impact on transcriptional regulation is presenting itself as the next step toward improved genetic diagnosis. Nature Publishing Group US 2020-09-25 2021 /pmc/articles/PMC7790743/ /pubmed/32973355 http://dx.doi.org/10.1038/s41436-020-00974-1 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review Article
D’haene, Eva
Vergult, Sarah
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title_full Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title_fullStr Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title_full_unstemmed Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title_short Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
title_sort interpreting the impact of noncoding structural variation in neurodevelopmental disorders
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790743/
https://www.ncbi.nlm.nih.gov/pubmed/32973355
http://dx.doi.org/10.1038/s41436-020-00974-1
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