42. Genomic gymnastics: Using RNAseq and mate pair sequencing to collaboratively decipher structural variation

      Structural variation is integral to several mechanisms of oncogenicity, including gene fusions, tumor suppressor disruption, copy number variants (CNVs), and upregulation of oncogenes via position effects. The Mayo Clinic Genomics laboratory used clinically validated assays to perform RNA sequencing (RNAseq) and mate pair sequencing (MPseq) on 15 neoplastic specimens, including 8 hematologic and 7 solid tumor specimens. Conventional cytogenetic studies detected abnormalities in 10 of these cases, directing targeted analyses of NGS data.
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