Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies

CONCLUSIONS: OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.PMID:38433573 | DOI:10.3343/alm.2023.0339
Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Authors: Source Type: research