# HG changeset patch # User Jim Johnson # Date 1370354610 18000 # Node ID c8261328a9ffc00c114658001875e56a81352b58 # Parent 53a99a00d5ec00df2ae6ded3c826e89ea7501e42 Add README file diff -r 53a99a00d5ec -r c8261328a9ff README --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/README Tue Jun 04 09:03:30 2013 -0500 @@ -0,0 +1,24 @@ +MMuFLR: Missense Mutation and Frameshift Location Reporter +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. 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. + +The parameter settings in the workflows are set for human samples. + +To execute MMuFLR create a Galaxy history and upload the four input files: + 1. tumor sample forward reads fastq + 2. tumor sample reverse reads fastq + 3. dbSNP VCF file + 4. additional exclusions VCF + +Select Galaxy-Workflow-MMuFLR_v1.4.ga to Run +Set input files for Galaxy-Workflow-MMuFLR_v1.4.ga +For the Tophat step, set: + - Mean Inner Distance between Mate Pairs + - Std. Dev for Distance between Mate Pairs + +If you have reads from matched tumor/normal tissue samples, +run the Galaxy-Workflow-MMuFLR_Human_germline_v1.4.ga on the noraml samples with inputs: + 1. normal sample forward reads fastq + 2. normal sample reverse reads fastq + 3. dbSNP VCF file +and use the final VCF as input 4 "additional exclusions VCF" in the Galaxy-Workflow-MMuFLR_v1.4.ga workflow. +