Laboratory Centers for NHLBI DNA Re-Sequencing and Genotyping Program

NHLBI DNA 重测序和基因分型项目实验室中心

• 批准号: 8008842
• 负责人: DEBORAH A NICKERSON
• 金额: $ 187.23万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-30 至 2010-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8008842
• 关键词: Blood; Candidate Disease Gene; Complementary DNA; DNA; Databases; Doctor of Philosophy; Frequencies; Genbank; Gene Frequency; Gene Targeting; General Population; Genes; Genomics; Genotype; Hearing; Heart; Hour; Human; Individual; Institutes; Laboratories; Lung; Maps; National Heart, Lung, and Blood Institute; Principal Investigator; Relative (related person); Sampling; Single Nucleotide Polymorphism; Single Nucleotide Polymorphism Map; Specific qualifier value; Variant; programs

PRINCIPAL INVESTIGATOR: Deborah A. Nickerson, PhD SUMMARY OF OBJECTIVES: The overall objective of this proposal is to sequence a set of individual DNA samples from the general population to identify, genotype, and map single nucleotide polymorphisms (SNPs) in candidate genes and regions as directed by the administrative center appointed by the National Hear Heart, Lung, and Blood Institute (NHBI) and the NHBI. For each gene identified by the NHLBI administrative center, we will: 1. Identify and assembly all sequences available for the targeted regions and genes (both genomic and cDNA) collected by the national database and UCSC database to generate the most accurate baseline ("representative") reference sequence for each gene in a specified region. 2. Identify the primer sets needed to amplify the baseline reference sequence from human genomic DNA for the targeted genes, and to optimize and redesign the sets as required for amplification. 3. Amplify and sequence the targeted regions across specified DNA samples, 4, Identify, genotype, confirm, map and determine the relative frequencies of SNPs 5. Deliver the variants, their genotypes and allele frequencies to dbSNP, Genbank, and to the NHBI administrative center within 48 hours of verification in the specific required formats.

主要研究员： Deborah A. Nickerson 博士 目标摘要：该提案的总体目标是对一组单独的 来自一般人群的 DNA 样本，用于识别、基因分型和绘制单核苷酸图谱 行政中心指导下的候选基因和区域的多态性（SNP） 由国家心脏、肺和血液研究所 (NHBI) 和 NHBI 任命。对于每个 基因经NHLBI行政中心鉴定后，我们将： 1. 鉴定并组装所有序列 可用于国家收集的目标区域和基因（基因组和 cDNA） 数据库和 UCSC 数据库生成最准确的基线（“代表性”）参考 指定区域中每个基因的序列。 2. 确定扩增基线所需的引物组 从人类基因组DNA中提取目标基因的参考序列，并优化和重新设计 根据放大需要设置。 3. 对指定 DNA 的目标区域进行扩增和测序 样品，4，识别、基因分型、确认、绘制图谱并确定 SNP 的相对频率 5. 交付 将变异体、其基因型和等位基因频率提交至 dbSNP、Genbank 和 NHBI 行政中心在48小时内按具体要求格式进行核实。