Hazel Thomas, Genetic Research at UW, Week 7

Posted in: Pinhead Intern Blogs, 2020 Interns, Hazel Thomas
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Hello again! This week Maddie and I met to talk about our plan for the rest of my internship. We zoomed at the beginning of the week, and she gave me an outline for writing my final paper. In order for me to prepare for this paper, I am continuing to add more information and data to my patient table. For this, I have been using a resource from the University of Washington to get the CADD scores for each of my patients. CADD scores (Combined Annotation Dependent Depletion) tell you how deleterious(harmful) the mutation is. This means that if it has a score above 30 it is considered “likely deleterious” and if the score is below 30 it is considered “likely benign.” Also in my table are the variant and genomic descriptions. We can use these to identify the clustering of the mutations within the gene. To do this we will use a program coded by one of Maddie’s coworkers. We can plug the Python code into a server to help us identify any clusters. 

Updated patient table

This, along with all of the other work I have done so far, will be included in the final paper that I am writing. This paper will be a mock scientific write-up. I will start off with an introduction to teach the reader about OI. Then I will talk about the different methods of research that Maddie and I used. This will include my literature review, the analysis of protein alignment between different species, and an analysis of mutations in different genes, OI types, and the clustering. The third section will be the results from my protein alignment, mutations, and the clustering; these will be shown through figures that I make. The final part of my paper will be a discussion about my results and what I have learned overall. I plan to finalize this paper within the next week. In order to prepare for writing it, I have been reading other scientific papers and resources with tips on writing a scientific paper.

Outside of my internship, I have been working at the pool. This is the last week the pool is open. I have also been prepping for the start of school next week. I am also starting to get ready for the 2021 FTC robotics season. It is a robotics team sponsored by Pinhead, that competes every year in a statewide competition. Last year we placed third in our qualifiers, and are hoping to do even better this year. On Saturday night I crashed my bike and broke my arm, so my friend Maile is typing this for me!

Last seasons robot at qualifiers

More coming next week!

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