Improving Accuracy of Somatic Mutation Profiling in Large Epidemiologic Studies: Addressing Cases without Matched Normal Samples
Arshi Arora, Li Luo, Caroline E. Kostrzewa, Allison Reiner, Venkatraman Seshan, Marc S. Ernstoff, Sharon N. Edmiston, Kathleen Conway, Ivan Gorlov, Klaus Johannes BUSAM, Irene Orlow, Eva Hernando, Nancy E. Thomas, Marianne Berwick, Colin B. Begg, , InterMEL
The paper improves somatic mutation detection in tumor samples without matched normal samples by estimating tumor purity and variant allele frequency, reducing false positive and negative rates.
bioRxiv · Oct 28, 2024 · PreprintGenomics