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

Abstract excerpt

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...