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cnv_analysis.gz.tar 2013-12-05 745.9 kB
readme.txt 2013-12-05 1.2 kB
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- How to run cnv_analysis.rb
  $ ruby cnv_analysis.rb -h
  Usage: ruby cnv_analysis.rb [options]
    -g, --gender=v                   Gender [M|F]
    -r, --reads=v                    total reads
    -i, --input=v                    Input file
    -o, --output=v                   Output file name

- Make sure the reference files are in the ref directory, same path as cnv_analysis.rb  
  ref/female-reference-189gene.txt
  ref/male-reference-189gene.txt


- Example:
  ie.  ruby cnv_analysis.rb -g m -r 17274816 -i test/partial/MDL25013-female-totalreads-17274816-OTC.txt

  $ ruby cnv_analysis.rb -g f -r 13630199 -i test/hom/MDL46165-female-totalreads-13630199.txt
  Reference file: female-reference-189gene.txt
  M/F: f
  Total reads: 13630199
  Input File: test/hom/MDL46165-female-totalreads-13630199.txt
  running....
  done

  $ ls -1
  cnv_analysis.rb
  female-reference-189gene.txt
  male-reference-189gene.txt
  MDL46165-female-totalreads-13630199_cnv_deldup.txt
  MDL46165-female-totalreads-13630199_cnv_full.txt

- Output files will have _cnv_full.txt and _cnv_deldup appened to the end
  *_cnv_full.txt - full output with all entries
  *_cnv_deldup.txt - output with deldup entries
Source: readme.txt, updated 2013-12-05