THE CANCER GENOME ANATOMY PROJECT'S GENETIC ANNOTATION INITIATIVE

癌症基因组解剖计划（CGAP）基因注释 倡议（GAI）是一项努力，以扩大收集 现有的基于基因的癌症基因分析试剂 research.其目标是提高信息的效用 和通过国家信息中心CGAP在遗传 研究家庭和人口。高分辨率遗传 对人类基因组的分析有望提供重要的 了解常见疾病易感性。执行这样 分析将需要收集高通量，高- 密度分析试剂使用信息学工具， 检查冗余的原始表达序列标签（EST）数据，我们 已经确定了超过10，000个候选人，基于基因，单一 核苷酸多态性（SNP）。经验验证试点 研究表明，超过75%的人认为， （> 1/16染色体的频率）变异。几百个 已被测试为孟德尔传播，并放置在一个 遗传参考图谱所有的结果都通过 WWW和NCBIs dbSNP。来自援助最贫穷者协商组的万维网网址 （cgap.nci.nih.gov/GAI）用户可以进行搜索，检查 序列组件，查看主色谱数据，以及 评估变体的地图背景。这一努力一直是 通过对感兴趣的基因进行系统重测序来补充 to cancer癌症researchers研究人员. 300多个3UTR区域 基因已正向和反向测序8 个体

The Cancer Genome Anatomies Projects (CGAP) Genetic Annotation Initiative (GAI) is an effort to expand the collection of available gene-based genetic analysis reagents for cancer research. Its goal is to enhance the utility of information and resources generated through the NCIs CGAP in genetic studies of families and populations. High resolution genetic analysis of the human genome promises to provide important insight into common disease susceptibility. To perform such analysis will require a collection of high-throughput, high- density analysis reagents. Using informatics tools that examine redundant raw expressed sequence tag (EST) data, we have identified more than 10,000 candidate, gene-based, single nucleotide polymorphisms (SNPs). Empiric validation pilot studies indicate that greater than 75% identify common (frequency of > 1/16 chromosomes) variation. Several hundered have been tested for Mendelian transmission and placed in a genetic reference map. All of the results are distributed via the WWW and the NCBIs dbSNP. From the CGAPs WWW site (cgap.nci.nih.gov/GAI) users can perform searches, examine sequence assemblies, view the primary chromatogram data, and assess the map context of the variants. This effort has been complemented by systematic resequencing of genes of interest to cancer researchers. More than 300 3UTR regions of these genes have been forward and reversed sequenced in 8 individuals.