Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Abstract 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 addit...

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Bibliographic Details
Main Authors: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Genome Medicine
Subjects:
Bartter syndrome type 3
Salt-wasting tubulopathy
Long-read sequencing
Target enrichment
CLCNKA
CLCNKB
Online Access:https://doi.org/10.1186/s13073-023-01215-1

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