Most importantly, our method performed just as well as the traditional strategy that requires both tumor and healthy samples, opening the door to reducing the cost and increasing the accessibility of high-quality cancer mutation analysis.
My team and I are exploring expanding our searches to include large collections of tumors from different types of cancers such as breast and lung. Determining which organ a tumor originated from is critical to prognosis and treatment because it can indicate whether the cancer has metastasized or not. Because most tumors have specific mutational signatures, recovering evidence of an SV within a specific tumor sample could help identify the patient’s tumor type and lead to faster treatment.
Ryan Layer is an assistant professor of computer science at the University of Colorado Boulder.
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