Implications of self-identified race, ethnicity, and genetic ancestry on genetic association studies in biobanks within health systems

no code implementations • 24 Feb 2024 • Ruth Johnson, Bogdan Pasaniuc

Precision medicine aims to create biomedical solutions tailored to specific factors that affect disease risk and treatment responses within the population.

Generalizability of PRS313 for breast cancer risk amongst non-Europeans in a Los Angeles biobank

no code implementations • 6 May 2023 • Helen Shang, Yi Ding, Vidhya Venkateswaran, Kristin Boulier, Nikhita Kathuria-Prakash, Parisa Boodaghi Malidarreh, Jacob M. Luber, Bogdan Pasaniuc

We found that the PRS313 achieved overlapping Areas under the ROC Curve (AUCs) in females of Lantix (AUC, 0. 68; 95 CI, 0. 65-0. 71) and European ancestry (AUC, 0. 70; 95 CI, 0. 69-0. 71) but lower AUCs for the AFR and EAA populations (AFR: AUC, 0. 61; 95 CI, 0. 56-0. 65; EAA: AUC, 0. 64; 95 CI, 0. 60-0. 680).

A Bayesian method for estimating gene-level polygenicity under the framework of transcriptome-wide association study

no code implementations • 25 Jul 2022 • Arunabha Majumdar, Bogdan Pasaniuc

However, evaluating polygenicity at the gene level can be biologically more meaningful.

Specificity