Laboratory Centers for NHLBI DNA Re-Sequencing and Genotyping Program

首席执行官：Deborah A. Nickerson博士 序列摘要：本提案的总体目标是对一组单独的 从普通人群中提取DNA样本，以识别、基因分型和绘制单核苷酸图谱 候选基因和区域中的多态性（SNP），由管理中心指导 由国家心脏，肺和血液研究所（NHBI）和NHBI任命。为每个 经NHLBI管理中心鉴定的基因，我们将：1.识别并组装所有序列 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，以生成最准确的基线（“代表性”）参考 在特定区域中的每个基因的序列。2.确定扩增基线所需的引物组 从人类基因组DNA中提取靶基因的参考序列，并优化和重新设计 按放大要求设置。3.在指定的DNA中扩增和测序靶区域 样本，4，识别，基因型，确认，地图和确定SNPs的相对频率5。提供 将变异体、其基因型和等位基因频率与dbSNP、Genbank和NHBI进行比较， 行政中心在48小时内以具体要求的格式进行核查。

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.