I recently took a DNA test and found out that I was a carrier for cystic fibrosis, but I had no idea what this meant and the implications it could have on starting a family. I was disappointed in the information offered by genetic testing companies that identified this issue and thought that parents needed something better to screen themselves before conceiving. There is no current easy and cost effect way for two parents to have their DNA compared as a whole unit under the scope of looking at their children.
What it does
Our program reads genomic data files as they would come from a lab and identifies a cystic fibrosis variant in the parent's genome. If this variant is detected then we will prompt them to speak with one of our genetic counselors.
How we built it
We used a python backend that parses .vcf genomic data from "gnomAD" as a template for what a typical parent genetic information file would look like. The backend then searches for specific variations in the patient's DNA. We have a website that displays the results to a user, written in HTML.
Challenges we ran into
We struggled with getting our backend fully connected, however, our website mimics our python code and the code is included for viewing. Our project given more time could grow to many more genetic variation detection for all sorts of diseases.
Accomplishments that we're proud of
We are proud of our website design and the advanced parsing tactics applied to the absolutely massive amount of information pulled from the gnomAD database. On top of this, we explored the ClinVar variation database to highlight a variant that causes cystic fibrosis and were able to effectively search for it in the massive "gnomAD" files.
What we learned
We learned extensive information on genetics and how genetic files are created. We learned a ton of backend development and the connections of the two.
What's next for Eileithyia Health
In the future, we would like to expand to more genetic diseases screened, more variations per disease, and better access for those of all incomes to genetic counselors
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