EmbedGEM: A framework to evaluate the utility of embeddings for genetic discovery
Sumit Mukherjee, Zachary Ryan McCaw, Jingwen Pei, Anna Merkoulovitch, Tom Soare, Raghav Tandon, David Amar, Hari Somineni, Christoph Klein, Santhosh Satapati, David Lloyd, Christopher S. Probert, Daphne Koller, Colm T. O’Dushlaine, Theofanis Karaletsos
EmbedGEM evaluates embeddings for genetic discovery by assessing heritability and disease relevance using polygenic risk scores and genome-wide association statistics.
Bioinformatics Advances · Jan 1, 2024Peer-reviewedBioinformatics