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Mutation Status In Myeloid Malignancies Informs Clinical Insight, Karl Haslam

Doctoral

The last decade has seen significant development in understanding the genetic basis of myeloproliferative neoplasms (MPN), with the underlying somatic mutational landscape revealed by genome and targeted exome sequencing. The aim of this research was to conduct a series of original investigations to develop insight into the utility and clinical application of these disease markers. Initially, three recently identified disease-specific molecular markers (mutations in JAK2, CALR and CSF3R) were utilised to measure the burden of disease post allogeneic transplantation using methods based on quantitative PCR, capillary electrophoresis and Sanger sequencing. The measured variant allelic frequency of the disease was compared …