A Computational Protocol for Detecting Somatic Mutations by Integrating DNA and RNA Sequencing

  • Matthew D. WilkersonEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1878)


Somatic mutation detection is a fundamental component of cancer genome research and of the molecular diagnosis of patients’ tumors. Traditionally, such efforts have focused on either DNA exome or whole genome sequencing; however, we recently have demonstrated that integrating multiple sequencing technologies provides increased statistical power to detect mutations, particularly in low-purity tumors upon the addition of RNA sequencing to DNA exome sequencing. The computational protocol described here enables an investigator to detect somatic mutations through integrating DNA and RNA sequencing from patient-matched tumor DNA, tumor RNA, and germline specimens via the open source software, UNCeqR.

Key words

Somatic Mutation Cancer UNCeqR Open source Protocol 


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Collaborative Health Initiative Research Program, The American Genome Center, Department of Anatomy, Physiology and GeneticsUniformed Services UniversityBethesdaUSA

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