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.
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
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Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA.
Blood Adv 6: 2022 3178-3188