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BBGRE: brain and body genetic resource exchange

Studies of copy number variation (genomic imbalance) are providing insight into both complex and Mendelian genetic disorders. Array comparative genomic hybridization (array CGH), a tool for detecting copy number variants at a resolution previously unattainable in clinical diagnostics, is increasingl...

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Detalles Bibliográficos
Autores principales: Ahn, Joo Wook, Dixit, Abhishek, Johnston, Caroline, Ogilvie, Caroline M., Collier, David A., Curran, Sarah, Dobson, Richard J. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785255/
https://www.ncbi.nlm.nih.gov/pubmed/24077841
http://dx.doi.org/10.1093/database/bat067
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author Ahn, Joo Wook
Dixit, Abhishek
Johnston, Caroline
Ogilvie, Caroline M.
Collier, David A.
Curran, Sarah
Dobson, Richard J. B.
author_facet Ahn, Joo Wook
Dixit, Abhishek
Johnston, Caroline
Ogilvie, Caroline M.
Collier, David A.
Curran, Sarah
Dobson, Richard J. B.
author_sort Ahn, Joo Wook
collection PubMed
description Studies of copy number variation (genomic imbalance) are providing insight into both complex and Mendelian genetic disorders. Array comparative genomic hybridization (array CGH), a tool for detecting copy number variants at a resolution previously unattainable in clinical diagnostics, is increasingly used as a first-line test at clinical genetics laboratories. Many copy number variants are of unknown significance; correlation and comparison with other patients will therefore be essential for interpretation. We present a resource for clinicians and researchers to identify specific copy number variants and associated phenotypes in patients from a single catchment area, tested using array CGH at the SE Thames Regional Genetics Centre, London. User-friendly searching is available, with links to external resources, providing a powerful tool for the elucidation of gene function. We hope to promote research by facilitating interactions between researchers and patients. The BBGRE (Brain and Body Genetic Resource Exchange) resource can be accessed at the following website: http://bbgre.org Database URL: http://bbgre.org
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spelling pubmed-37852552013-09-30 BBGRE: brain and body genetic resource exchange Ahn, Joo Wook Dixit, Abhishek Johnston, Caroline Ogilvie, Caroline M. Collier, David A. Curran, Sarah Dobson, Richard J. B. Database (Oxford) Database Tool Studies of copy number variation (genomic imbalance) are providing insight into both complex and Mendelian genetic disorders. Array comparative genomic hybridization (array CGH), a tool for detecting copy number variants at a resolution previously unattainable in clinical diagnostics, is increasingly used as a first-line test at clinical genetics laboratories. Many copy number variants are of unknown significance; correlation and comparison with other patients will therefore be essential for interpretation. We present a resource for clinicians and researchers to identify specific copy number variants and associated phenotypes in patients from a single catchment area, tested using array CGH at the SE Thames Regional Genetics Centre, London. User-friendly searching is available, with links to external resources, providing a powerful tool for the elucidation of gene function. We hope to promote research by facilitating interactions between researchers and patients. The BBGRE (Brain and Body Genetic Resource Exchange) resource can be accessed at the following website: http://bbgre.org Database URL: http://bbgre.org Oxford University Press 2013-09-27 /pmc/articles/PMC3785255/ /pubmed/24077841 http://dx.doi.org/10.1093/database/bat067 Text en © The Author(s) 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Tool
Ahn, Joo Wook
Dixit, Abhishek
Johnston, Caroline
Ogilvie, Caroline M.
Collier, David A.
Curran, Sarah
Dobson, Richard J. B.
BBGRE: brain and body genetic resource exchange
title BBGRE: brain and body genetic resource exchange
title_full BBGRE: brain and body genetic resource exchange
title_fullStr BBGRE: brain and body genetic resource exchange
title_full_unstemmed BBGRE: brain and body genetic resource exchange
title_short BBGRE: brain and body genetic resource exchange
title_sort bbgre: brain and body genetic resource exchange
topic Database Tool
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785255/
https://www.ncbi.nlm.nih.gov/pubmed/24077841
http://dx.doi.org/10.1093/database/bat067
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