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

[1]  D. Pinto,et al.  Rare deletions at the neurexin 3 locus in autism spectrum disorder. , 2012, American journal of human genetics.

[2]  Yu Wang,et al.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures , 2008, Nature Genetics.

[3]  D. Collier,et al.  NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders , 2013, Journal of molecular psychiatry.

[4]  Manuel Corpas,et al.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.

[5]  Tom H. Pringle,et al.  The human genome browser at UCSC. , 2002, Genome research.

[6]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[7]  Steven Van Vooren,et al.  Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience , 2012, Human mutation.

[8]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[9]  Xiaowu Gai,et al.  High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. , 2009, Genome research.

[10]  S. Mohammed,et al.  Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance , 2010, Molecular Cytogenetics.

[11]  E. Vassos,et al.  Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders , 2013, PloS one.

[12]  R. Pfundt,et al.  A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.

[13]  A. Hills,et al.  MLPA for confirmation of array CGH results and determination of inheritance , 2010, Molecular Cytogenetics.

[14]  S. Mansour,et al.  Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform. , 2011, European journal of medical genetics.