Lawson Woods

Helios Scholar

Multiple myeloma (MM) is a cancer of bone marrow plasma cells which causes bone weakness and reduced production of red and white blood cells. Identifying the patient’s unique disease characteristics to leverage a precision medicine approach is critical to securing the patient’s best chance of survival. RNA sequencing provides clues for the best way to treat an individual cancer in the form of over- and under- expressed genes and gene fusions. Gene fusions, in which multiple chromosomal regions fuse to produce a new DNA sequence, are especially relevant in MM. For example, ~13% of patients have a fusion that decreases their survival outcome in which the highly-expressed IGH locus fuses with the NSD2 region to increase the expression of NSD2. Identifying this fusion accurately is increasingly important as NSD2 inhibitors are currently being developed in the clinical trial stage. While Illumina NovaSeq short read sequencing typically produces reads in pairs of 150bp each, PacBio Revio long read sequencing produces reads from 15-20 kilobases in length, making it theoretically easier to align data to a reference genome and detect complex fusion events spanning multiple breakpoints. This project focuses on characterizing the strengths and limitations of long-read RNA sequencing in the context of MM cancer data.