Laboratory Centers for NHLBI DNA Re-Sequencing and Genotyping Program

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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.