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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
MMuFLR: missense mutation and frameshift location reporter
Susan K Rathe1, James E Johnson, Kevin A T Silverstein
1Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA. rath0096@umn.edu
Bioinformatics (Oxford, England)
|July 5, 2013
Summary
Cancer researchers can now identify novel protein targets using the Missense Mutation and Frameshift Location Reporter (MMuFLR) workflow. This tool analyzes RNA sequencing data to find mutations, aiding immunotherapy development.
Area of Science:
- Bioinformatics
- Genomics
- Cancer Research
Background:
- Identifying cancer-specific protein targets is crucial for immunotherapy development.
- Existing tools may not efficiently detect specific mutation types in highly expressed genes.
Purpose of the Study:
- To introduce the Missense Mutation and Frameshift Location Reporter (MMuFLR) workflow.
- To provide a reliable method for identifying novel protein candidates for cancer immunotherapy.
Main Methods:
- MMuFLR is a Galaxy-based workflow analyzing paired-end RNA sequencing data.
- It specifically identifies small frameshift and missense mutations in protein-coding genes.
- The workflow filters out known SNPs, low-quality reads, and poly-A/T sequences.
Main Results:
- MMuFLR reliably detects frameshift and missense mutations.
- It pinpoints the location and amino acid sequences of novel protein candidates.
- Results are formatted for direct input into epitope evaluation tools.
Conclusions:
- MMuFLR offers a valuable tool for cancer researchers.
- It facilitates the discovery of potential immunotherapy targets.
- The workflow enhances the identification of novel protein candidates from RNA-seq data.
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