RAREMETAL Command Reference

Useful Pages

• The Home Page

• The RAREMETAL Documentation

• The RAREMETAL Tutorial

• The RAREMETAL FAQ

• The RAREMETALWORKER documentation

Command References

Overview of Options

Options:
      List of Studies : --studyName []
     Grouping Methods : --groupFile [], --annotatedVcf [], --annotation [],
                        --writeVcf
           QC Options : --hwe [1.0e-05], --callRate [0.95]
  Association Methods : --burden, --MB, --SKAT, --VT, --condition []
        Other Options : --labelHits, --correctGC, --prefix [],
                        --mapFile [../src/refFlat_hg19.txt], --maf [0.05],
                        --longOutput, --tabulateHits, --hitsCutoff [1.0e-06]
                        --altMAF

Describing Studies

  --studyName [your.list.of.studies.file]

Additional details on this option is available.

Methods to Group Rare Variants

--groupFile      [your.groups.file]
--annotatedVcf   [your.annotated.vcf]
--annotation     [nonsyn/stop/splice]
--writeVcf       [ON|OFF]

Additional details on groupFile, annotatedVcf, annotation and writeVcf options are available.

QC Options

  --hwe            [hwe.pvalue.cutoff]                     (default = 1e-05)
  --callRate      [variant.call.rate.cutoff]               (default = 0.95)

Additional details on these options are available.

Association Methods for Meta-analysis

  --useExact   optimized method for unbalanced studies with unrelated samples,
                           described RAREMETAL METHOD#SINGLE_VARIANT_SCORE_TEST.
  --burden      burden test with equal weight        
  --MAB         burden test with MAF as weight
  --MB          burden test with sqrt(maf(1-maf)) as weight
  --BBeta     beta distribution as weight
  --VT           variant threshold test
  --SKAT         standard SKAT test
  --condition   [your.list.of variants.to.be.conditioned.upon]

Additional details for these options are available.

Other Options for Performance and Amenities

 --labelHits    [ON|OFF]
 --correctGC    [ON|OFF]
 --prefix       [your.prefix]
 --maf          [your.maf.threshold.for.gene-level.tests]    (default = 0.05)
 --longOutput   [ON|OFF]
 --tabulateHits [ON|OFF]
 --hitsCutoff   [your.cutoff.for.hits]                       (default = 1e-06)
 --altMAF       [if specified, studies that do not contain the variant will be excluded.]

Additional details for these options are available.