Discovery of Clinically Relevant Fusions in Pediatric Cancer
Stephanie LaHaye, James Fitch, Kyle Voytovich, Adam Herman, Benjamin Kelly, Grant Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D McGrath, Anthony R. Miller, Amy N. Wetzel, Katherine E. Miller, , Peter White
The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.
BMC Genomics · Dec 1, 2021Peer-reviewedGenomics