The Essence of SNPs

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The Essence of SNPs

• Skyler Stein
• Sandra Morris
• Sarah Figueroa
• Caitlin Bevans

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Introduction

• What are SNPs?
• Methods of Identifying SNPs
• Who is using and discovering SNPs
• Why are SNPs important?
• How are SNPs applied?

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What are SNPs?

• Single Nucleotide Polymorphism
• Mutation 1 or greater in population.
• 1/1000 base pairs

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Method for Identifying SNPs

• Elegant Simplicity vs.. Advance
• Technology
• Start with PCR
• PCR costly
• New Technology

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Polymerase Chain Reaction
http//www.rit.edu/gtfsbi/IntroBiol/images/CH11/f
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Who is Discovering and Using SNPs?

• Public and Private institutes
• Supporting information and examples
• National Human Genome Research Institute
• Genset

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Why are they important?

• Evolution
• Diversity
• New Alleles

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Application

• Pathogenic Effects
• Undergo Positive / Negative / Neutral Selection
• Direct Association vs. Linkage Disequilibrium
• Mapping genes to diseases/ disorders using SNPs

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Association Analysis - Direct
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Ensembl

• http//www.ensembl.org/index.html
• Public Database of Genome Sequences