Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.

ABSTRACT:

Background

Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of duplications and balanced structural variants (SV). However, this information may be necessary for their clinical assessment, especially if the carrier's phenotype is difficult to assess and/or carrier analysis of relatives is not viable. A promising approach to solving such challenging cases arises with access to optical genome mapping (OGM) but has not been systematically explored as of yet.

Methods

In this retrospective study, we evaluated diagnostic cases from a 1-year period (2023) in which an SV discovery by SOC methods (microarray, karyotyping and whole-exome sequencing) was fo

SUBMITTER: Dremsek P 

PROVIDER: S-EPMC11877032 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature