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

Yeeun ShimYu-Kyung KooSaeam ShinSeung Tae LeeKyung-A LeeJong Rak Choi
Published in: Annals of laboratory medicine (2024)
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.
Keyphrases
  • high resolution
  • loop mediated isothermal amplification
  • real time pcr
  • label free
  • clinical practice
  • genome wide