e-Science enables improved diagnostics of Chronic Myeloid Leukemia (CML) with next-generation sequencing

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Authors:Wesley Schaal, Adam Ameur and Ola Spjuth
Abstract:We have used long-read PacBio sequencing to detect resistance mutations in BCR-ABL1. In contrast to other technologies, the PacBio reads are long enough to cover the entire gene so that clonal composition can be assessed, with the idea that compound mutations may be significant for Resistance. The assay has a higher sensitivity as compared to Sanger’s sequencing and mutations down to 0.5% can be detected.
Venue: Swedish e-Science Academy 2015, Stockholm
Published:9 Oct, 2015