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Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements

Publication at First Faculty of Medicine |
2021

Abstract

In summary, we present a PCR-based protocol that allows direct and fast mapping of even very complex Alu/Alu-mediated rearrangements. We believe this method may substantially facilitate nucleotide level molecular diagnostics as well as family screening/counselling.