Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.

Authors

Anna Lindstrand, Jesper Eisfeldt

Published in

Methods in molecular biology (Clifton, N.J.). Volume 2968. Pages 151-159.

Abstract

Complex chromosomal rearrangements (CCRs), defined as structural variants involving more than two chromosomes or multiple breakpoint junctions, are challenging to resolve, and causal mutations often go unnoticed in genome studies. Short-read whole-genome sequencing enables the characterization of rearrangement junctions in unique sequences. However, issues persist within repetitive regions of the genome, which are prone to rearrangements. Therefore, complementary genome sequencing technologies may be required to solve the structures of CCRs.Hybrid sequencing, which combines multiple genome sequencing datasets from the same individual, results in a more complete representation of the genome. This approach enhances the ability to resolve rearrangement structures and map breakpoint junctions more accurately.

PMID:
40884642
Bibliographic data and abstract were imported from PubMed on 30 Aug 2025.

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