Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

ABSTRACT: The identification of structural variant (SV) breakpoints plays a crucial role in understanding the genetic variants, mutagenic mechanisms, and functional consequences that drive various genetic diseases. While next-generation sequencing (NGS) has become a cornerstone in single nucleotide variant (SNP) discovery and characterization, short-read NGS technology faces significant challenges in resolving large genomic rearrangements such as duplications, deletions, inversions, and translocations. Nanopore sequencing offers a promising alternative by enabling precise mapping of chromosomal rearrangement breakpoints, and characterization of chromosomal alterations, thereby improving the genetic diagnosis of such conditions. Using long-read whole-genome sequencing, we examined the breakpoints of

SUBMITTER: Montini M 

PROVIDER: S-EPMC12775432 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature