Giulia KennedyPhD
BMC Bioinformatics · 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes

Moraima Pagan, Richard T. Kloos, Chu-Fang Lin, Kevin J. Travers, Hajime Matsuzaki, Ed Y. Tom, Su Yeon Kim, Mei G. Wong, Andrew C. Stewart, Jing Huang, P. Sean Walsh, Robert J. Monroe, Giulia C. Kennedy

Senior authorverifiedThyroid nodule genomic classification
Journal
BMC Bioinformatics · vol. 17 · no. Suppl 1
Published
11 Jan 2016

Synopsis

Targeted RNA sequencing of 851 variants and 133 fusions in 524 genes in thyroid samples, a precursor of the Afirma Xpression Atlas. In fine-needle aspiration biopsies, genetic alterations were detected in 19 of 44 malignant samples (43% sensitivity) and 7 of 44 histopathology-benign samples (84% specificity); with tissue samples added, 50% of malignant and 20% of benign samples carried an alteration. Kennedy is the last author.

In the career genome

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