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Linking genetic variants to kidney disease via the epigenome

The largest GWAS for kidney function so far provided the starting point for integrated multi-stage annotation of genetic loci. Whole kidney and single-cell epigenomic information is crucial for translating GWAS information to the identification of causal genes and pathogenetic (and potentially targetable) cellular and molecular mechanisms of kidney disease.

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Fig. 1: Translating genetic and epigenetic variations into mechanisms of kidney disease.


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This is a summary of: Liu, H. A. et al. Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease. Nat. Genet. (2022).

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Linking genetic variants to kidney disease via the epigenome. Nat Genet 54, 922–923 (2022).

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