Genetic & Genomic MedicinemedRxivPreprint
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…·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.
4 citations