2007•Unpublished venueRequires access
Multiplexed SNP Genotyping Using Allele-Specific Primer Extension on Microarrays
Juha Saharinen, Pekka Ellonen, Janna Saarela, Leena Peltonen
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Abstract
Systematic sequencing of the genomic DNA of multiple individuals from
different populations has produced detailed information of a high number
of single nucleotide variations across the human genome (1, 2). The single
nucleotide polymorphisms (SNPs) are excellent genetic markers; when
compared to the repeat polymorphisms, SNPs are more stable and evenly
distributed across the genome (3). Currently over 9 million SNPs in the
human genome are deposited to various databases, such as NCBI, dbSNP,
HGVBase and the SNP Consortium (4-6). However, despite the overwhelming amount of identified SNPs in databases, only a fraction of them
have been carefully validated and their allele frequency information in
various populations determined (7, 8). Table 8.1 presents some major SNP
databases and validation efforts.