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Chunk #5 — Introduction

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Marker selection for genetic case-control association studies.
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When utilising the HapMap data as a reference for the selection of SNPs for a genetic association study it is important to be aware that the genotypes and associated statistics are based on the characterized sample populations and may not be directly transferable to the individuals in a given study. Thus, investigators should view summary statistics for the HapMap population which they believe is most similar in terms of ancestry to the study population. Also, certain SNPs will either not have been genotyped in HapMap or may be monomorphic in the HapMap population of 60 individuals. Better characterisation of such SNPs may be based on a more complete resource such as dbSNP, although this database has the limitation that SNPs may not have been validated and that no genotype data is publicly available. For studying specific candidate regions other publicly available SNP databases such as SeattleSNPs (http://pga.mbt.washington.edu/) and GeneSNPs (http://www.genome.utah.edu/genesnps/) sometimes offer better coverage since they contain genotype information from resequencing of genes or candidate regions. An international collaborative effort launched in 2008, The 1000 Genomes Project aims to resequence