Primer on SNPs

CIGENE

DNA-sequence variation accounts for a large fraction of the observed differences between individuals. Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology of humans and other species. The majority of sequence variation is due to substitutions at individual base pairs, called single nucleotide polymorphisms (SNPs).

Primary assets
A SNP represents the smallest possible allele. SNPs are very stable, frequent, well distributed and extremely amenable for digital high-throughput geno-typing.

What can you do with SNPs?
• Help identify genes underlying complex (oligogenic,polygenic) diseases in humans and commercially important traits in plants, fish and mammals:
- general genome-wide markers
- markers for fine-mapping of Quantitative Trait Loci (QTL)
- causal genetic variation
• Customized drug development preventing adverse drug reactions (pharmacogenomics)
• Determination of haplotype blocks (”haplotype tag SNPs”), linkage diseqilibrium (LD), genome-wide recombination frequencies, general genome dynamics
• Localize positively selected genome segments (genes) in human, animal and plant populations
• Detection of regulatory variation in populations
• Large-scale biodiversity studies

Among many others...

Read more about SNPs at http://www.ncbi.nlm.nih.gov/About/primer/snps.html and http://www.ornl.gov/hgmis/faq/snps.html



Updated: 21.04.06
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