Article
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome medicine - 23 Aug 2023
Tschernoster Nikolai, Erger Florian, Kohl Stefan, Reusch Björn, Wenzel Andrea, Walsh Stephen, Thiele Holger, Becker Christian, Franitza Marek, Bartram Malte P, Kömhoff Martin, Schumacher Lena, Kukat Christian, Borodina Tatiana, Quedenau Claudia, Nürnberg Peter, Rinschen Markus M, Driller Jan H, Pedersen Bjørn P, Schlingmann Karl P, Hüttel Bruno, Bockenhauer Detlef, Beck Bodo, Altmüller Janine
Abstract excerpt
BACKGROUND: Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to additional events. Bartter syndrome type 3 (BS 3) is a monogenic tubulopathy caused by deleterious variants in the chloride...
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