Next Generation Sequencing of Suspected Myelodysplastic Syndromes

Simon Kavanagh

Research output: ThesisMaster's Thesis

137 Downloads (Pure)


High-throughput DNA sequencing can detect pathogenic mutations in bone marrow from patients with myelodysplastic syndrome (MDS).
In this study, blood and bone marrow from patients with unexplained cytopenias were sequenced. Pathogenic variants were identified in 33.8% of patients with complete concordance between blood and marrow in 75/77 (97.4%) for these variants. Detection was 56% sensitive and 76.9% specific for a diagnosis of MDS.
Sequencing blood is a reasonable alternative to marrow but may be limited when the variants are at low allele frequency. While associated with MDS, the presence of pathogenic variants was insufficiently sensitive/specific to replace conventional diagnostic methods.
Original languageEnglish
Awarding Institution
  • The University of Western Australia
  • Erber, Wendy, Supervisor
  • Howman, Rebecca, Supervisor
Award date10 Mar 2020
Publication statusUnpublished - 2020


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