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Clinical interpretation of copy number variants in the human genome

Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and...

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Autor principal: Nowakowska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655614/
https://www.ncbi.nlm.nih.gov/pubmed/28963714
http://dx.doi.org/10.1007/s13353-017-0407-4
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author Nowakowska, Beata
author_facet Nowakowska, Beata
author_sort Nowakowska, Beata
collection PubMed
description Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs.
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spelling pubmed-56556142017-11-01 Clinical interpretation of copy number variants in the human genome Nowakowska, Beata J Appl Genet Human Genetics • Review Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs. Springer Berlin Heidelberg 2017-09-30 2017 /pmc/articles/PMC5655614/ /pubmed/28963714 http://dx.doi.org/10.1007/s13353-017-0407-4 Text en © The Author(s) 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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.
spellingShingle Human Genetics • Review
Nowakowska, Beata
Clinical interpretation of copy number variants in the human genome
title Clinical interpretation of copy number variants in the human genome
title_full Clinical interpretation of copy number variants in the human genome
title_fullStr Clinical interpretation of copy number variants in the human genome
title_full_unstemmed Clinical interpretation of copy number variants in the human genome
title_short Clinical interpretation of copy number variants in the human genome
title_sort clinical interpretation of copy number variants in the human genome
topic Human Genetics • Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655614/
https://www.ncbi.nlm.nih.gov/pubmed/28963714
http://dx.doi.org/10.1007/s13353-017-0407-4
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