Week 10: Analyzing Results, Final Steps
Hi Everyone!
This week, I focused on analyzing results from the ClinPrior gene catalog, preparing my final presentation, and creating my final product.
Final Presentation Preparation (+Additional Analysis)
Although my rehearsal with Dr. Ponder and Ms. Bennett went well, there were a couple of findings that I still need to add to the presentation. For example, the inheritance of deleterious genes was not addressed in my rehearsal presentation. In order to make the phenotypes and inheritance patterns in certain cases more accessible to the audience, I will add diagrams such as the one below:
In this example, a female individual from family 45 has two unaffected parents; however, she developed intellectual disability, epilepsy, and other issues due to a variant in the FAM135A gene.
Reflections
A main takeaway I gathered from this senior project is that scientific research must be built on strong connections. This includes the connection between AI’s outputs and human understanding, as well as the relationship between coders and the clinicians using their programs. No matter how much information an AI model is trained on, it is still up to human understanding to properly digest and apply the outputs that the technology creates. Part of the reason why ClinPrior was successful in identifying causal variants was because of the communication between the creators of the program and the scientists using it. MARRVEL, on the other hand, prioritized variants with allelic frequency, not impact, creating rankings that geneticists and scientists can disprove by inspection. As a result of the disconnect between program creators and the scientists using the program for results, the model had little diagnostic success. Overall, this exposure to research taught me the importance of effective communication.
Final Steps
With the senior project almost over, I will continue working on the presentation and poster for the next few days. With my final presentation on Friday, I am feeling both excited and nervous to share my experience. Still, I find it imperative to share what I have learned from this valuable experience.
Thank you for reading!
-Caitlin
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