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MMuFLR: missense mutation and frameshift location reporter
Author(s) -
Susan K. Rathe,
James E. Johnson,
Kevin A.T. Silverstein,
Jesse Erdmann,
Adrienne L. Watson,
Flavia E. Popescu,
John R. Ohlfest,
David A. Largaespada
Publication year - 2013
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btt385
Subject(s) - frameshift mutation , missense mutation , mutation , genetics , computer science , computational biology , biology , gene
Cancer researchers seeking immunotherapy targets in cancer cells need tools to locate highly expressed proteins unique to cancer cells. Missense mutation and frameshift location reporter (MMuFLR), a Galaxy-based workflow, analyzes next-generation sequencing paired read RNA-seq output to reliably identify small frameshift mutations and missense mutations in highly expressed protein-coding genes. MMuFLR ignores known SNPs, low quality reads and poly-A/T sequences. For each frameshift and missense mutation identified, MMuFLR provides the location and sequence of the amino acid substitutions in the novel protein candidates for direct input into epitope evaluation tools.

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