Mercurial > repos > jjohnson > mmuff
comparison README @ 2:04e170c09922
Add a workflow for noraml tissue samples.
| author | Jim Johnson <jj@umn.edu> |
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| date | Fri, 12 Apr 2013 07:51:45 -0500 |
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| 1:6e49aa2461bd | 2:04e170c09922 |
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| 1 MMuFF: Missense Mutation and Frameshift Finder | |
| 2 analyzes Next Generation Sequencing (NGS) paired read RNA-seq output to reliably identify small frameshift mutations, as well as missense mutations, in highly expressed protein-coding genes. MMuFF ignores known SNPs, low quality reads, and poly-A/T sequences. For each frameshift and missense mutation identified MMuFF provides the location and sequence of the amino acid substitutions in the novel protein candidates for direct input into epitope evaluation tools. | |
| 3 | |
| 4 The parameter settings in the workflows are set for human samples. | |
| 5 | |
| 6 To execute MMuFF create a Galaxy history and upload the four input files: | |
| 7 1. tumor sample forward reads fastq | |
| 8 2. tumor sample reverse reads fastq | |
| 9 3. dbSNP VCF file | |
| 10 4. additional exclusions VCF | |
| 11 | |
| 12 Select Galaxy-Workflow-MMuFF_v1.2.ga to Run | |
| 13 Set input files for Galaxy-Workflow-MMuFF_v1.2.ga | |
| 14 | |
| 15 If you have reads from matched tumor/normal tissue samples, | |
| 16 run the Galaxy-Workflow-MMuFF_Human_germline_v1.2.ga on the noraml samples with inputs: | |
| 17 1. normal sample forward reads fastq | |
| 18 2. normal sample reverse reads fastq | |
| 19 3. dbSNP VCF file | |
| 20 and use the final VCF as input 4 "additional exclusions VCF" in the Galaxy-Workflow-MMuFF_v1.2.ga workflow. | |
| 21 |
