Machine learning pipeline for genome-wide association studies
Published in United States Patent Application US20240120024A1, 2024
Genome-wide association studies (GWAS) allow for the detection of variants statistically associated with disease risk. However, inferring the underlying causal genes is challenging. This approach utilizes machine learning to predict genes from GWAS summary statistics, substantially improving causal gene identification in terms of both precision and recall.
Status: Pending (Published 2024-04-11) Assignee: Illumina Inc.
Recommended citation: Field, Y., Ulirsch, J. C., Malangone, C., Madrid-Mencia, M., et al. (2024). "Machine learning pipeline for genome-wide association studies." U.S. Patent Application No. 18/483,313 (Publication No. US20240120024A1).
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