HIGH RESOLUTION SNP MAP OF THE HUMAN GENOME

人类基因组高分辨率 SNP 图谱

• 批准号: 2799104
• 负责人: DAVID R COX
• 金额: $ 168万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-30 至 2001-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2799104
• 关键词: genetic mapping; genetic markers; genetic polymorphism; genetic registry /resource /referral center; genome; human genetic material tag; human population genetics; nucleic acid sequence; polymerase chain reaction

Our overall goal is to 1) identify a dense set of single nucleotide polymorphisms (SNPs) spanning the human genome, 2) identify two alleles at each variant site, 3) order these SNPs with high confidence on a single integrated high-resolution map of the human genome containing genes and simple sequence repeat (SSR) markers, and 4) place all of this information in a public database, accessible to a wide range of potential users. We propose a three-year collaborative effort between the Stanford Human Genome Center (SHGC) and Affymetrix, Inc. to screen 24,000 sequence tagged sites (STSs) per year for polymorphic variation using Affymetrix DNA arrays. Each STS will be derived from BAC clones and amplified from the genomic DNA of eight anonymous unrelated individuals. Our preliminary data suggest that we will identify 6,000 such polymorphisms per year, with one in every four STSs containing a common variant. We will use an independent technology (ABI gel-based fluorescent sequencing) on DNA from two informative individuals, identified by chip-based screening, to confirm each SNP. Each polymorphic allele will be placed in a publicly-accessible database within 90 days of demonstrated consistency between gel-based and chip- based analyses. Our final product will be a map of 72,000 STSs, including 18,000 SNPS, integrated with 30,000 previously-mapped genes and simple sequence repeat (SSR) markers, ordered with greater than 95 percent confidence at 100 kb resolution.

我们的总体目标是 1) 识别一组密集的单核苷酸 跨越人类基因组的多态性 (SNP)，2) 识别两个等位基因 在每个变异位点，3) 以高置信度对这些 SNP 进行排序 人类基因组的单一集成高分辨率图谱包含 基因和简单序列重复 (SSR) 标记，4) 将所有这些 公共数据库中的信息可供广泛访问 潜在用户。 我们建议双方进行为期三年的合作 斯坦福人类基因组中心 (SHGC) 和 Affymetrix, Inc. 进行筛选 每年 24,000 个序列标记位点 (STS) 用于多态性变异 使用 Affymetrix DNA 阵列。 每个 STS 都源自 BAC 克隆 并从 8 名不相关的匿名者的基因组 DNA 中进行扩增 个人。 我们的初步数据表明我们将识别 6,000 每年都会出现这样的多态性，每四个 STS 中就有一个含有 常见变体。 我们将使用独立技术（ABI gel-based 荧光测序）对来自两个信息丰富的个体的 DNA， 通过基于芯片的筛选进行鉴定，以确认每个 SNP。 每个 多态性等位基因将被放置在可公开访问的数据库中 在证明基于凝胶和芯片之间的一致性后 90 天内 为基础的分析。 我们的最终产品将是一张包含 72,000 个 STS 的地图， 包括 18,000 个 SNPS，与 30,000 个先前映射的基因集成 和简单序列重复 (SSR) 标记，排序数量大于 95 100 kb 分辨率下的置信度百分比。