Description
Instructions and Guidelines In your research project, you will do an investigation of an assigned gene and protein associated with a human disease. Imagine that you are a researcher who is interested in this gene, gene product and disease. Use all bioinformatics tools available online to gain better understanding of the problem. In the report: 1. Describe the function of the gene and gene product as well as the phenotype (clinical picture). Start with using the OMIM database for better understanding of the condition and its genetic associations. 2. Explain how mutations in the gene and protein could contribute to the observed phenotype. Explore the NCBI protein file. There may be more than one gene and protein associated with the disease. You need to look at those other genes/proteins as well. 3. Use various versions of the BLAST search to find similar sequences and probable homologues in humans and other species. 4. Check if there are any corresponding entries in PDB. Present and discuss the protein structures associated with the condition. How is it helpful in understanding gene’s function and in possible explaining of the pathology? 5. Use all appropriate online tools to complete the investigation and summarize your research. Have a conclusion briefly restating what you learned about the gene function and suggesting further research and a list of references at the end of the report. The research project report should be at least 6 pages long, in addition to the cover page and references. The text is double spaced, font size 12. The report must include the following section, clearly identified: Cover page Introduction Results Discussion Conclusion List of references 1 Your report must have at least 8 references cited in the standardized format (APA or MLA). This is the site that provides some examples of citing in the APA format. http://www.library.cornell.edu/resrch/citmanage/apa
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