MuSiCal—A New NCI-Funded Tool for Analyzing Genetic Mutations
With today’s technologies, you have lots of options for finding the mutations that support cancer’s development. But simply knowing where those mutations occur isn’t enough, as it can be hard to determine which biological process is truly driving the development of the disease.
Now, thanks to researchers funded by NCI’s Division of Cancer Biology, you have a new tool called “MuSiCal” (or Mutational Signature Calculator) that can help determine the underlying cause of these mutations.
Read the full technical report, “Accurate and sensitive mutational signature analysis with MuSiCal,” in Nature Genetics.
According to corresponding author, Dr. Peter Park, who works in the department of biomedical informatics at Harvard Medical School, MuSiCal offers several improvements over current algorithms.
He noted, “Because multiple biological processes generate mutations over time, inferring these processes—which we call ‘mutational signatures’—from a patient sample is a complicated mathematical problem. MuSiCal solves several problems in the standard workflow, so we can identify existing signatures more accurately and discover new signatures more efficiently. We demonstrated this by re-analyzing more than 2,700 cancer genomes.”
He added, “Mutational signature analysis can inform prognosis and treatment decisions for cancer patients. Thus, continued development of computational methods in this area will be critical.”