Mercurial > repos > jjohnson > mmuff
annotate README @ 3:0b3a14a7b5f1
Fix link from SnpEff to SnpSift
author | Jim Johnson <jj@umn.edu> |
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date | Fri, 12 Apr 2013 09:30:08 -0500 |
parents | 04e170c09922 |
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rev | line source |
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2
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
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1 MMuFF: Missense Mutation and Frameshift Finder |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
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. |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
3 |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
4 The parameter settings in the workflows are set for human samples. |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
5 |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
6 To execute MMuFF create a Galaxy history and upload the four input files: |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
7 1. tumor sample forward reads fastq |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
8 2. tumor sample reverse reads fastq |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
9 3. dbSNP VCF file |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
10 4. additional exclusions VCF |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
11 |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
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12 Select Galaxy-Workflow-MMuFF_v1.2.ga to Run |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
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13 Set input files for Galaxy-Workflow-MMuFF_v1.2.ga |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
14 |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
15 If you have reads from matched tumor/normal tissue samples, |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
16 run the Galaxy-Workflow-MMuFF_Human_germline_v1.2.ga on the noraml samples with inputs: |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
17 1. normal sample forward reads fastq |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
18 2. normal sample reverse reads fastq |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
19 3. dbSNP VCF file |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
20 and use the final VCF as input 4 "additional exclusions VCF" in the Galaxy-Workflow-MMuFF_v1.2.ga workflow. |
04e170c09922
Add a workflow for noraml tissue samples.
Jim Johnson <jj@umn.edu>
parents:
diff
changeset
|
21 |