Bio 363 Human Genetics Spring 2013
Take home final exam
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Read the following paper and the accompanying supplementary information:
Cullup et al., 2013. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature Genetics 45: 83-89.

Write a narrative that intertwines a summary and critique of the paper. Start with background information from other sources on relevant biological phenomena and relevant genes that have been previously characterized.
Then, focusing on the data shown in the paper itself plus the one or two most important (in your opinion) figures from the supplementary information, summarize each experiment in terms of 1) the reason for each experimental approach, 2) how the technique works in general, and 3) the data generated and the meaning thereof. Also critique each experiment in terms of the quality of the data and the accuracy of the authors' interpretations. Describe implications for future research. Throughout, pay careful attention to your wording to avoid inappropriate emulation of phrases and sentence structure from the original paper.
For the items from the supplementary materials that you cover,
discuss why you think they are important to include.

You MAY use the internet and any books or other printed material you can find. Be sure to cite all sources properly! (See the Davidson Department of Biology Statement on Plagiarism.) You may NOT use your classmates or any other person as a resource. You may NOT tell each other about reference sources you have found. Feel free to contact me with questions; if I feel that your question is appropriate to answer, I will email a copy of the question and my response to the whole class.

There is no length restriction. Be concise but complete. Please email me your summary and critique by Monday May 13th at 10 AM. Include your last name at the beginning of the file that you attach to your email.