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L20 - Genetic Variation
Understand the 1000 genomes project and what…
L20 - Genetic Variation
- Understand the 1000 genomes project and what data can be accessed
- Understand genetic variation may/may not have functional consequences
- Describe the various databases used to assess functional genetic variants
- Define the term population genetics and the forces that influence genetic change in populations
- Describe the effect of mutation on allele frequencies in populations
- Understand that mating patterns have a large effect on allele frequencies in populations*
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Functional Genetic Variation & Protein Polymorphism
- Most genetic variation has a neutral effect on the phenotype but small fraction is harmful and/or beneficial?
- Functional variants that are primarily studied are those that have an effect on gene function
- Estimating how much of genome is functionally important is not straight forward
- Even within the small target of sequences that are important for gene function, many small DNA changes may still have no effect (coding, regulatory, noncoding RNA).*
Functioal Change and Mutation
There are two extremes with regard to mutation and attendant functional change
- Changes in which virtually all the amino acids in the allele can be replaced while maintaining original function
- Single mutation may give rise to new function
OMIM (Online Mendelian Inheritance of Man
Concerned with mapping the muations in protein coding regions which result in monogenetic disorders
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"Encode"
Attempting to decipher the purpose of non-genic regions of DNA which are transcribed
- In 2007 the project was expanded to include
similar assays in mice
- Project continues to create a comprehensive catalogue of gene elements and functional elements in the human and mouse genomes by:
- Measuring RNA expression levels
- Identifying proteins that interact with RNA
- DNA (e.g. modified histones, transcription factors & RNA-binding proteins)
- Measuring the levels of DNA methylation
- Identifying regions of DNA hypersensitivity
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