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DISEASE GENETICS

Linking disease-associated genetic variants to cell types and processes

Nature Reviews Genetics volume 23, pages 712–713 (2022)Cite this article

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The pathological mechanisms of disease-associated variants identified by genome-wide association studies (GWAS) are hard to determine owing to their majority presence in noncoding regions and a lack of knowledge about the cell types and processes in which these variants are active. Jagadeesh, Dey et al. report the development of ‘sc-linker’, an open-source framework that integrates single-cell RNA sequencing (scRNA-seq) data with GWAS data to identify the likely cell types and cellular processes by which genetic variants influence disease.

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Kirsty Minton

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  1. Kirsty Minton
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Correspondence to Kirsty Minton.

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Minton, K. Linking disease-associated genetic variants to cell types and processes. Nat Rev Genet 23, 712–713 (2022). https://doi.org/10.1038/s41576-022-00545-x

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  • DOI: https://doi.org/10.1038/s41576-022-00545-x

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