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Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease

28 Feb 2023

Abstract excerpt

The causal variants and genes underlying thousands of cardiac GWAS signals have yet to be identified. Here, we leverage spatiotemporal information on 966 RNA-seq cardiac samples and perform an expression quantitative trait locus (eQTL) analysis detecting eQTLs considering both eGenes and eIsoforms. We identify 2,578 eQTLs associated with a specific developmental stage-, tissue- and/or cell type. Colocalization...

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PMID: 36854752
DOI: 10.1038/s41467-023-36638-2

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