1. If the human genome is three billion base pairs long, estimate the average nu

Question

1. If the human genome is three billion base pairs long, estimate the average number of SNPs in the human genome. 2. Predict the different effects that a SNP would have if it were located in an exon, an intron, or in a intragenic region. GWAS studies compare the frequency of SNPs in a control population against the frequency of the same SNPs in an affected population. Typical GWAS studies recruit thousands of individuals and look at thousands to millions of genetic variants in each individual. The amount of data generated from such a study is immense and has been termed "big data." Microarrays, whole genome sequencing, and exome sequencing are all technologies that are used to analyze vast amounts of variants from many individuals 3. Compare and contrast these three technologies (microarrays, whole genome sequencing. exome sequencing) in terms of their methodologies and the information that they can provide. The following resources may be helpful: Genetic Science Learning Center. 2013. DNA microarray..My46 (University of Washington). n.d. Whole genome and exome sequencing.. NISC. 2015. Whole exome sequencing and analysis Whole genome sequencing: Exome sequencing 4. Direct-to-consumer companies, like 23andMe and Gentle Labs, offer genomic screening to individuals for fees ranging from several hundreds of dollars to several thousands of dollars. The technology used, the number of SNPs tested, and the number of traits for which they screen vary by company. Research these two companies and complete the chart below 1.23andMe 2. Gentle Labs 5. The number of SNPs that would be analyzed in a research lab is much higher than the number of SNPs that commercial companies test for. For example, there are over 5000 SNPs that have been identified in the CYP2C9 gene, yet Gentle Labs only tests twelve of them and 23andMe tests two of them. Why would these companies only test a fraction of the known SNPs in a certain gene?

Explanation / Answer

1.) A SNP is a polymorphism in the population. Each individual has a given variant for any given of SNPs. SNPs occur once in every 300 nucleotides , which means there are roughly 10 million SNPs in the human genome.

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