Myelodysplastic syndrome (MDS) is brought on by an accumulation of somatic mutations in hematopoietic stem cells resulting in ineffective hematopoiesis. Distinguishing mutational status at the single-cell level offers precision in diagnosis and informs treatment options, and clonal lineage reconstruction provides a comprehensive picture of the disease progression. MDS and acute myeloid leukemia (AML) are both myeloid disorders and can share overlapping molecular signatures.
In this technical note, the Tapestri Single-cell DNA AML Panel was used to analyze the mutational landscape of two patients with myelodysplastic syndrome (MDS). The results showed high sensitivity, clonal resolution, and concordance of variant allele frequency between single-cell and bulk next-generation sequencing data. Additionally, clonal variant co-occurrence was resolved, allowing for clonal lineage reconstruction and a more comprehensive picture of the patients’ disease.
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