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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group
2017
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Materias: | |
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. |
format | Online Article Text |
id | pubmed-5597573 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
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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