Genomic and transcriptomic data analyses highlight KPNB1 and MYL4 as novel risk genes for congenital heart disease
Martin E. Broberg, Minna Ampuja, Samuel E. Jones, Tiina H. Ojala, Otto P. Rahkonen, Riikka Kivelä, James Rush Priest, FinnGen, Hanna Maria Ollila, Emmi Helle
The paper identifies KPNB1 and MYL4 as novel risk genes for congenital heart disease through GWAS, eQTL analysis, and functional validation in patient-derived cardiomyocytes.
medRxiv · Jan 7, 2022 · PreprintGenetic & Genomic Medicine