Changes

From Genome Analysis Wiki
Jump to navigationJump to search
1,246 bytes removed ,  19:15, 14 August 2013
Line 51: Line 51:  
                                 --traitName QT1 --inverseNormal --makeResiduals --kinSave --kinGeno --prefix yourprefix.example2
 
                                 --traitName QT1 --inverseNormal --makeResiduals --kinSave --kinGeno --prefix yourprefix.example2
   −
==STEP 3: Run RAREMETAL to do Meta-Analysis==
+
==STEP 3: Run RAREMETAL for Meta-Analysis==
    
* In this step, we run RAREMETAL to meta-analyze two studies without using any of raw data.
 
* In this step, we run RAREMETAL to meta-analyze two studies without using any of raw data.
 +
* Before doing analysis, open raremeta/studyname.list and modify the prefix with the right path. The file should look like
 +
  $yourpath/raremetal_tutorial/raremetalworker/output/example1.QT1
 +
  $yourpath/raremetal_tutorial/raremetalworker/output/example1.QT2
 
* First, we perform single variant and four type of gene-level meta-analysis all at once, using the following command line:
 
* First, we perform single variant and four type of gene-level meta-analysis all at once, using the following command line:
   
   cd raremetal
 
   cd raremetal
 
   $yourRAREMTALpath/bin/raremetal --studyName studyname.list --groupFile group.file --SKAT --burden --MB --VT  
 
   $yourRAREMTALpath/bin/raremetal --studyName studyname.list --groupFile group.file --SKAT --burden --MB --VT  
                                   --longOutput --tabulateHits --hitsCutoff 1e-05 --hwe 1.0e-05 --callRate 0.95 --prefix yourprefix.QT1
+
                                   --hwe 1.0e-05 --callRate 0.95 (# QC options)
* The command above allows you to gene
+
                                  --longOutput --tabulateHits --hitsCutoff 1e-05 --prefix yourprefix.QT1 (#output options)
* A list of studies to be included is an essential piece of information for '''RareMETAL''' to run.
+
                                  --mapFile ../refFlat_hg19.txt.gz
* First, modify the example.studyname file to make the output files of RareMetaWorker reachable by RareMETAL.
  −
  cd $yourPath/raremetal_tutorial/inputfiles
  −
* Open example.studyName and modify them into the following:
  −
 
  −
  $yourLocalPath/rmw_tutorial/outputfiles/example1.LDL
  −
  $yourLocalPath/rmw_tutorial/outputfiles/example2.LDL
  −
* If gene-level meta analysis is expected, then annotation information or groups of variants are necessary. RareMETAL can take group file to get this piece of information. * An example group file is in the following:
  −
  $yourLocaPath/raremetal_tutorial/inputfiles/nonsyn.stop.splice.groupfile
  −
 
  −
* RareMETAL also takes annotated VCF as input to parse variant grouping information. Please refer to software documentation for details [http://genome.sph.umich.edu/wiki/Rare-Metal#Grouping_from_an_Annotated_VCF_File '''grouping from annotated VCF''']
  −
* RareMETAL allows filtering single variants to be included in meta analysis according to their QC information summarized by raremetalworker, including HWE p-value and genotype call rate.  
     −
* Finally, to meta-analyze the above two samples using summary statistics, the following command will generate results from single variant meta analysis, gene-level meta analysis using SKAT, Madsen-Browning burden test, simple burden test, Variable Threshold Burden tests.
+
* The following output are generated
   $yourPath/bin/raremetal --studyName --$yourLocaPath/raremetal_tutorial/inputfiles/example.studyname
+
  yourprefix.meta.plots.pdf (## QQ plots and manhattan plots from both single variant and gene-level meta-analysis)
    --groupFile $yourLocaPath/raremetal_tutorial/inputfiles/nonsyn.stop.splice.groupfile --SKAT --VT --burden --MB --maf 0.05 --hwe 1.0e-05 --callRate 0.95
+
  yourprefix.meta.singlevar.results
    --prefix $yourLocaPath/raremetal_tutorial/results/
+
   yourprefix.meta.burden.results
* To generate a lengthy results and report hits, the following command should be used:
+
  yourprefix.meta.SKAT.results
   $yourPath/bin/raremetal --studyName --$yourLocaPath/raremetal_tutorial/inputfiles/example.studyname
+
  yourprefix.meta.VT.results
    --groupFile $yourLocaPath/raremetal_tutorial/inputfiles/nonsyn.stop.splice.groupfile --SKAT --VT --burden --MB --maf 0.05 --hwe 1.0e-05 --callRate 0.95
+
  yourprefix.meta.MB.results
    --longOutput --tabulateHits --hitsCutoff 1.0e-05 --prefix $yourLocaPath/raremetal_tutorial/results/
+
   yourprefix.meta.tophits.SKAT.tbl
* Please refer to the documentation for detailed description of output format. [http://genome.sph.umich.edu/wiki/Rare-Metal#Output_Files '''RareMETAL Results''']
+
  yourprefix.meta.tophits.VT.tbl
 +
  yourprefix.meta.tophits.burden.tbl
 +
  yourprefix.meta.tophits.MB.tbl
 +
  yourprefix.raremetal.log
 +
* Please refer to the RAREMETAL [[RAREMETAL_Documentation#Gene-level_Tests_Meta-Analysis_Output|'''documentation''']] for detailed description of output format.  
 +
* RAREMETAL also takes annotated VCF as input to parse variant grouping information. Please refer to software [[RAREMETAL_Documentation#Group_Rare_Variants_from_Annotated_VCF|'''documentation''']] for details.
   −
* RareMETAL also allows users to output an VCF file of the super set of all variants and use their favorite annotation tool to annotate it and then come back to RareMETAL for the gene-level meta analysis. --writeVCF is the option to use. Please refer to [http://genome.sph.umich.edu/wiki/Rare-Metal#Generate_a_VCF_File_to_Annotate_Outside_of_Rare_Metal '''Write VCF and Annotated outside RareMETAL''']
+
* RAREMETAL allows users to output an VCF file of the super set of all variants and use their favorite annotation tool to annotate it and then come back to RAREMETAL for the gene-level meta analysis. [[RAREMETAL_Documentation#Generate_a_VCF_File_to_Annotate_Outside_of_Rare_Metal|'''--writeVCF''']] is the option to use.
2,004

edits

Navigation menu