TY - JOUR AU - Jessen, Erik AU - Liu, Yuanhang AU - Davila, Jaime AU - Kocher, Jean-Pierre AU - Wang, Chen PY - 2021 DA - 2021/03/01 TI - Determining mutational burden and signature using RNA-seq from tumor-only samples JO - BMC Medical Genomics SP - 65 VL - 14 IS - 1 AB - Traditionally, mutational burden and mutational signatures have been assessed by tumor-normal pair DNA sequencing. The requirement of having both normal and tumor samples is not always feasible from a clinical perspective, and led us to investigate the efficacy of using RNA sequencing of only the tumor sample to determine the mutational burden and signatures, and subsequently molecular cause of the cancer. The potential advantages include reducing the cost of testing, and simultaneously providing information on the gene expression profile and gene fusions present in the tumor. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-021-00898-y DO - 10.1186/s12920-021-00898-y ID - Jessen2021 ER -