Reflecting on today's fantastic #iMED2022, I am thrilled to share an app I've been creating to create high-quality🤓, collaborative🗺️, & dynamic 📈diagnostic #MedEd schemas!
Enter your content in the sheet, make it public, share with friends, and copy the URL into the app for instant simple schemas that you can export as PDFs 🤯
And adding a new node or branch is as simple as adding a row to your sheet!🙌4/
You may also be able to envision new ways to integrate this into #MedEd teaching.💡
For example, the Vandy Problem Solvers @VUmedicine@VUMCMedicineRes with leadership from @chasejwebber allowed me to create a schema in real-time while we worked through a case conference🕷️5/
This is still a work in progress (you will find bugs🐞) but I hope it might be helpful!
Thanks to so many that inspired me with their schemas, diagnostic thinking, digital tools, and discussion especially @chasejwebber
We have examples of how Neanderthals gave Eurasians individual genetic variants that contribute to traits; however, most medically/evolutionarily relevant traits are complex, with contributions from thousands of parts of the genome. We wanted something more comprehensive...
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We use partitioned heritability to investigate the relationship between introgression and diverse traits. First, we show that genomic regions with Neanderthal ancestry are depleted of heritability for all traits considered, except those related to skin and hair.
By synthesizing topologically associating domain (TAD) maps across 37 diverse cell types with 41 genome-wide association studies (GWASs), we investigate the differences in disease association and evolutionary pressure on variation across the 3D genome landscape.
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We know that TAD boundary disruption by SV can lead to developmental disease and cancers. (Thus, selection acts against these SVs).
But what about the relationship between common human variation in TAD boundaries (eg. SNPs) and associations with complex traits?
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