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Exploring the genomic and epigenomic landscape of acute myeloid leukaemia with nanopore sequencing


Abstract

We report the first study that uses high-coverage whole-genome nanopore-sequencing to simultaneously analyse genomic and epigenomic alterations in cancer, and applied it to the analyses of clonal genomic/epigenomic evolution and mechanisms of drug-resistance in samples of acute myeloid leukaemias (AMLs) at diagnosis and relapse, after chemotherapy. The results confirm that intratumoral epigenetic heterogeneity is a common trait of relapsing/chemoresistant AMLs, which is distinguished from the genetic heterogeneity. The research further demonstrates that the relapse phenotype is most frequently supported by the selection of a few abnormally-methylated transcription factors that induce massive transcriptional reprogramming and contribute to both clonal evolution and drug resistance.

To learn more about other applications of nanopore sequencing in cancer research, click here.

Authors: Alberto Magi

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