RAREFY DOCUMENTATION

From Genome Analysis Wiki
Revision as of 19:04, 16 February 2015 by Shuang Feng (talk | contribs)
Jump to navigationJump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

KEY FEATURES

  • RAREFY is a likelihood-based method to prioritize individuals in family AND population samples.
  • RAREFY takes account familial relatedness and allows adjusting covariates.
  • RAREFY is able to handle large and complex pedigrees.

INPUT FILE FORMAT

  • RAREFY takes MERLIN format PED/DAT files as input, no MAP file is needed.
  • Input files should have pedigree information, phenotype, and covariates information (if covariates are to be adjusted) saved.

SOFTWARE INTERFACE

Options:
  Input Files : --ped [], --dat []
      Methods : --MCMC, --traitIncreasing, --traitDecreasing
        Trait : --inverseNormal, --useCovariates, --traitName []
   Parameters : --maf [1.0e-03], --effect [1.00]
         MCMC : --seed, --chains [3], --iterations [50000000]
        Other : --famList [], --famID [], --cpus [5], --prefix []

EXAMPLES

  • To prioritize individuals likely to be carriers of trait-increasing rare variants:
rarefy --ped your.ped --dat your.dat --traitIncreasing --prefix your.output.prefix
  • To prioritize individuals likely to be carriers of trait-decreasing rare variants:
rarefy --ped your.ped --dat your.dat --traitDecreasing --prefix your.output.prefix
  • To prioritize individuals likely to be carriers of either trait-decreasing or trait-decreasing rare variants:
rarefy --ped your.ped --dat your.dat --traitDecreasing --traitDecreasing --prefix your.output.prefix
  • To analyze families using MCMC method in 3 chains and 50000000 iterations:
rarefy --ped your.ped --dat your.dat --traitDecreasing --traitDecreasing --MCMC --chains 3 --iterations 50000000 --prefix your.output.prefix
  • To inverse Normalize the phenotype before analysis:
rarefy --ped your.ped --dat your.dat --traitDecreasing --traitDecreasing --inverseNormal --prefix your.output.prefix 
  • To analyze only a subset of families in the sample:
rarefy --ped your.ped --dat your.dat --traitDecreasing --traitDecreasing --famList your.file.with.famID --prefix your.output.prefix 
  • To analyze only one family:
rarefy --ped your.ped --dat your.dat --traitDecreasing --traitDecreasing --famID fam123 --prefix your.output.prefix