Precision Medicine for All: Using Tidymodels to Validate PRS in Brazil

on YouTube ↗17m

" summary

Uses tidymodels to validate European-derived breast cancer PRS in a highly admixed Brazilian cohort (≈75% multi-ancestry), showing three PRSs tested, two validated (3h0 and 313; 3h0 performs best) and one failing in the East Asian–majority subgroup due to wide CIs. Workflow uses rsample, recipes, parsnip, workflows, yardstick for stratified splits, control-normalized PRS, logistic regression, and ROC/AUC; top PRS decile yields odds ratios comparable to ATM/CHEK2. Result becomes a deployed Mendelix genetic test including PRS and top 100 cancer genes.

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" chapters (8)

1. 0:00Precision medicine & PRS validation
2. 3:56European PRSs in Brazil challenges
3. 7:16Overcoming overwhelm with tidymodels
4. 9:05Tidymodels workflow for PRS
5. 11:17Validating PRSs across ancestries
6. 13:34Clinical significance of PRS results
7. 14:41Key takeaways on precision medicine
8. 15:49Q&A

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