Week 8 Updates: Gene Catalogue and Final Product Preparation
Hi everyone! This week, I went hybrid: I spent one day at the lab and one day working remotely. So far, I have catalogued 23 cases, and I hope to finish at least 30 by the end of this week. In addition, I have made some changes in what I am putting in the gene catalogue. I have noticed some recurring patterns, and I have identified potential genes of interest regarding neurodevelopmental disease.
Cataloguing ClinPrior Results
Instead of finding the top 20 in each individual case’s ranked file, I am now only paying attention to the top 10 genes. Like before, I will still be comparing the top 10 genes in each case to the information in the broad batch database. Due to both time constraints and conciseness concerns, reducing the amount of genes observed by half will be beneficial in recognizing crucial information in the datasets.
When looking for potential genetic culprits of rare neurodevelopmental diseases, I pay the most attention to exonic variants in genes with low genetic variation. I found a variant of the WASHC1 gene and ASH1L gene ranked highly in several different cases. The OMIM has little data on WASHC1 specifically, but other WASHC genes (WASHC4 and WASHC5) are linked to intellectual developmental disorders. The ASH1L gene is linked to intellectual developmental disorders as well.
Final Product Plans and Next Steps
Aside from my responsibilities at the Schrauwen lab, I also reviewed final product plans with Dr. Ponder. I plan to create a poster, and Dr. Ponder suggested creating one online. I still prefer to make a physical poster as opposed to a digital one, as I believe that a concrete visual element will contribute to the accessibility and engagement that my project has to offer.
My main responsibilities for this week and the rest of next week include working on my project slideshow, planning the background section of my poster, and cataloguing more cases. In addition, I plan on discussing my findings with Dr. Schrauwen and rehearsing my final presentation.
Thanks for reading!
Caitlin
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