Deep learning based phenotyping of medical images improves power for gene discovery of complex disease
Brianna I. Flynn, Emily M. Javan, Eugenia Lin, Zoe D. Trutner, Karl M. Koenig, Kenoma O. Anighoro, Eucharist Kun, Alaukik Gupta, Tarjinder Singh, Prakash Jayakumar, Vagheesh M. Narasimhan
This paper uses deep learning to phenotype knee osteoarthritis from medical images, improving GWAS power and polygenic risk score prediction compared to traditional methods.
npj Digital Medicine · Aug 21, 2023Peer-reviewedGenetic & Genomic Medicine