Discovery and systematical characterization of Splicing Variation in Coronary Artery Disease

These discoveries largely inform ongoing diagnostic and therapeutic developments for common and rare types of CAD. At each locus, the risk allele may affect RNA transcription, the selection of transcript type (RNA splicing), the production and function of proteins, among other alterations. To assist personalized medicine of CAD, the specific functions of the many risk alleles need to be carefully classified. In the present work, we will focus on discovering and systematically investigating CAD risk loci affecting RNA splicing using sequenced or imputed genomic and transcriptomic data from over 220,000 participants including CAD cases and healthy controls from the DZHKomics resource. We hope to understand the role of splicing variations in CAD and prioritize novel diagnostic markers and therapeutic transcript targets relevant to disease onset.

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