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.
Database (Oxford). 2013 Sep 27;2013:bat067. doi: 10.1093/database/bat067. Print 2013.
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.
对拷贝数变异（基因组失衡）的研究为复杂和孟德尔遗传疾病提供了深入的了解。 阵列比较基因组杂交（array CGH）是一种用于检测以前在临床诊断中无法达到的拷贝数变异的工具，越来越多地作为临床遗传学实验室的一线测试。 许多拷贝数变异是未知意义的； 因此，与其他患者的相关性和比较对于解释至关重要。 我们为临床医生和研究人员提供了一个资源，用于识别来自单一集水区的患者中的特定拷贝数变异和相关表型，这些患者使用伦敦 SE Thames 地区遗传学中心的 array CGH 进行测试。 提供了用户友好的搜索功能，并链接到外部资源，为阐明基因功能提供了强大的工具。 我们希望通过促进研究人员和患者之间的互动来促进研究。 可以在以下网站访问 BBGRE（大脑和身体遗传资源交换）资源：http://bbgre.org。 数据库网址：http://bbgre.org。
