Characteristics of rare and private deletions identified in phenotypically normal individuals

Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not alwa...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597573/
https://www.ncbi.nlm.nih.gov/pubmed/28912957
http://dx.doi.org/10.1038/hgv.2017.37
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author Shimojima, Keiko
Yamamoto, Toshiyuki
author_facet Shimojima, Keiko
Yamamoto, Toshiyuki
author_sort Shimojima, Keiko
collection PubMed
description Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions.
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spelling pubmed-55975732017-09-14 Characteristics of rare and private deletions identified in phenotypically normal individuals Shimojima, Keiko Yamamoto, Toshiyuki Hum Genome Var Data Report Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions. Nature Publishing Group 2017-09-14 /pmc/articles/PMC5597573/ /pubmed/28912957 http://dx.doi.org/10.1038/hgv.2017.37 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Shimojima, Keiko
Yamamoto, Toshiyuki
Characteristics of rare and private deletions identified in phenotypically normal individuals
title Characteristics of rare and private deletions identified in phenotypically normal individuals
title_full Characteristics of rare and private deletions identified in phenotypically normal individuals
title_fullStr Characteristics of rare and private deletions identified in phenotypically normal individuals
title_full_unstemmed Characteristics of rare and private deletions identified in phenotypically normal individuals
title_short Characteristics of rare and private deletions identified in phenotypically normal individuals
title_sort characteristics of rare and private deletions identified in phenotypically normal individuals
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597573/
https://www.ncbi.nlm.nih.gov/pubmed/28912957
http://dx.doi.org/10.1038/hgv.2017.37
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