Large-scale trans-ethnic replication and discovery of genetic associations for rare diseases with self-reported medical data
Suyash Shringarpure, Wei Ting Wang, Yunxuan Jiang, Alison Acevedo, Devika Dhamija, Briana Cameron, A. A. Jubb, Peng Yue, Lea Sarov‐Blat, Robert C. Gentleman, Adam Auton
This paper uses self-reported medical data to perform GWAS on 33 rare diseases, rediscovering known associations and finding novel ones, validated across multiple populations.
medRxiv · Jun 9, 2021 · PreprintGenetic & Genomic Medicine