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 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.
Department of Cytogenetics, Guy's and St Thomas NHS Foundation Trust, London, SE1 9RT, UK, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF and NIHR Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation, London, SE5 8AF.
Joo Wook
JW
Ahn
Abhishek
A
Dixit
Caroline
C
Johnston
Caroline M
CM
Ogilvie
David A
DA
Collier
Sarah
S
Curran
Richard J B
RJ
Dobson
D001921:Brain / Q000378:metabolism*; D056915:DNA Copy Number Variations / Q000235:genetics; D030541:Databases, Genetic; D018594:Human Body; D006801:Humans