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Database Commons - BBGRE

BBGRE

Citations: 2

z-index 0.02

Short name BBGRE
Full name Brain & Body Genetic Resource Exchange
Description The Brain & Body Genetic Resource Exchange (BBGRE) provides a resource for investigating the genetic basis of neurodisability. It combines phenotype information from patients with neurodevelopmental and behavioural problems with clinical genetic data, and displays this information on the human genome map.
URL http://bbgre.org
Year founded 2013
Last update & version NA    v1.0
Availability Free to all users
University/Institution hosted Guy's and St Thomas NHS Foundation Trust
Address London, SE1 9RT, UK
City London
Province/State
Country/Region United Kingdom
Contact name Joo Wook Ahn
Contact email richard.j.dobson@kcl.ac.uk
Data type(s)
Major organism(s)
Keyword(s)
  • CNV
Publication(s)
  • BBGRE: brain and body genetic resource exchange. [PMID: 24077841]

    Joo Wook Ahn, Abhishek Dixit, Caroline Johnston, Caroline M Ogilvie, David A Collier, Sarah Curran, Richard J B Dobson
    Database : the journal of biological databases and curation 2013:2013
    2 Citations (Google Scholar as of 2016-02-27)

    Abstract: 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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Tags

Disease DNA Phenotype
Homo sapiens
CNV

Record metadata

  • Created on: 2015-06-20
  • Curated by:
    • Mengwei Li [2016-03-31]
    • Mengwei Li [2016-03-28]
    • Mengwei Li [2015-11-29]
    • Mengwei Li [2015-06-26]
Stats