Publications

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Inferring causal cell types of human diseases and risk variants from candidate regulatory elements

Published in medRxiv (preprint), 2024

We proposed methods to leverage cell-type-specific CREs to fine-map causal cell types for a trait and for its candidate causal variants.

Recommended citation: Kim, A., Zhang, Z., Legros, C., Lu, Z., de Smith, A., Moore, J.E., Mancuso, N., and Gazal, S. (2024). Inferring causal cell types of human diseases and risk variants from candidate regulatory elements. medRxiv.
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A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics

Published in American Journal of Human Genetics, 2023

We proposed a scalable factor analysis model to identify and characterize pleiotropic components using biobank GWAS summary data.

Recommended citation: Zhang, Z., Jung, J., Kim, A., Suboc, N., Gazal, S., and Mancuso, N. (2023). A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics. Am. J. Hum. Genet. 110, 1863–1874.
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