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Cell-free DNA and bone marrow samples from myelodysplastic syndromes

We have assessed the molecular profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) using cfDNA and compared the results to paired bone marrow (BM) DNA. Sequencing of BM DNA and cfDNA showed a comparable mutational profile and variant allele frequencies (VAF) strongly correlated between both sample types. Our results support the analysis of cfDNA as a promising strategy for performing molecular characterization, detection of chromosomal aberrations and monitoring of MDS patients.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001008567 NextSeq 500 140
Publications Citations
Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA.
Blood Adv 6: 2022 3178-3188