Whole Genome Sequencing Informed Patient Personalized Measurable Residual Disease Assays for Acute Myeloid Leukemia.

ABSTRACT: Post-treatment measurable residual disease (MRD) in acute myeloid leukemia (AML) patients is associated with adverse clinical outcomes. Validated molecular methods for AML MRD are preferable to flow cytometry assays but are not available for all patients. The limit of detection (LOD) of next-generation sequencing (NGS) assays for single nucleotide variants is restricted by technical error rates. Structural alterations are common genetic features of AML, but MRD approaches for detecting this class of variants have primarily relied on RNA. However, RNA has suboptimal stability, not all structural alterations are expressed as transcripts, and the impact of anti-leukemic therapy on transcription may make leukemic disease burden quantification inaccurate. In this study, we demonstrate a whole g

SUBMITTER: Ravindra N 

PROVIDER: S-EPMC12870688 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature