Article
Whole genome sequencing in early onset advanced heart failure.
Scientific reports - 5 Feb 2025
Linnér Erik, Czuba Tomasz, Gidlöf Olof, Lundgren Jakob, Bollano Entela, Hellberg Maria, Celik Selvi, Pimpalwar Neha, Rentzsch Philipp, Martorella Molly, Gummesson Anders, Melander Olle, Albinsson Sebastian, Dellgren Göran, Borén Jan, Jeppsson Anders, Lumbers R Thomas, Shah Sonia, Nilsson Johan, Natarajan Pradeep, Lappalainen Tuuli, Levin Malin, Ehrencrona Hans, Smith J Gustav
Abstract excerpt
The genetic contributions to early onset heart failure (HF) are incompletely understood. Genetic testing in advanced HF patients undergoing heart transplantation (HTx) may yield clinical benefits, but data is limited. We performed deep-coverage whole genome sequencing (WGS) in 102 Swedish HTx recipients. Gene lists were compiled through a systematic literature review. Variants were prioritized for pathogenicity...
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