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