GENEG006 - Analysis Of The In-Silicon SNP Assignment

Assignment Task

SNP Report 

Write a report detailing the in-silico analysis you have carried out to review 5 SNPs in LD with the lead SNP you have been assigned. Based on your analysis, which of these SNPs is most likely to regulate the expression of the causative gene associated with the disease or trait?

Also, provide a summary of the gene you have been assigned and explain how the function of the gene or the processes it is involved in may be relevant to the associated disease or trait. In this report, you should aim to demonstrate your understanding of

• The use of a variety of bioinformatics databases
• Linkage disequilibrium
• The relevance of tissue/cell-specific gene regulation at the DNA structure and transcription level and its relationship with the disease or trait.
• Experimental assays that can be used by ‘your lab’ to assess the functionality of a SNP.

You should also demonstrate that you can construct an argument, using in-silico evidence, to support the identification of the most likely functional SNP and causative gene.

Finally, you need to demonstrate that you are aware of the usual format of a paper, how references are cited, and that figures/tables need to be justified and legible.

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