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Functional and Fine-Mapping Approach to Improve Responsible Risk-modeling of Polygenic Risk Scores (FFAIRR-PRS)

Pradeep Natarajan (Broad Institute) and colleagues lead a study site aimed at addressing key gaps in the current ability to deliver polygenic scores accurately to diverse populations. First, they propose to harmonize and aggregate individual-level data from >50,000 individuals of South Asian ancestry – prioritized on the basis of marked under-representation in studies to date – developing and sharing analytic workflows and new statistical genetics approaches. Second, using a ‘diversity-first’ approach, they plan to validate the FFAIR-PRS approach for enhanced polygenic score development, and build integrated and calibrated absolute risk estimators to facilitate ultimate clinical adoption via other ongoing research efforts.

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