Computational assessment of genetic regulatory effects on RNA life using the DZHKomics resource

Genetic variants may have a direct impact on initial molecular phenotypes, such as RNA transcripts, ultimately contributing to the development of traits and diseases. For example, the GTEx consortium studies the genetic determination of gene expression (eQTL) and alternative RNA splicing (sQTL) in the US population. In this proposal, we employ the DZHKomics Resource to study eQTLs, sQTLs and beyond in a German reference cohort of apparently healthy individuals. We compare/validate with GTEx findings and establish a reference set for further hypothesis generation i.e. by contrasting with other heart disease cohorts. We will make all results available to the wider DZHK community through a web-based application service, which is an asset to the DZHK Digitalisation Initiative.

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