Skip to content

Pipeline for running Rare Genotype Callers Zcall (Broad) and Opticall (Sanger) on Illumina Exome Chips to improve on standard Genome Studio Gencall calls

Notifications You must be signed in to change notification settings

afolarin/chip_gt

Folders and files

NameName
Last commit message
Last commit date

Latest commit

 

History

48 Commits
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Repository files navigation

#########################################################################
# -- Author: Amos Folarin                                               #
# -- Organisation: KCL/SLaM                                             #
# -- Email: amosfolarin@gmail.com                                       #
#########################################################################


#------------------------------------------------------------------------
# Instructions for running the Genotyping Pipeline
# This will run both Zcall and Opticall on your post GenomeStudio 
# Exome chip data
#------------------------------------------------------------------------

---------------------------------REQUIREMENTS----------------------------

1) Sun Grid Engine
2) Zcall
3) Opticall





-----------------------------RUNNING THE PIPELINE------------------------

1) Read notes (GenomeStudio.SOP.v1.2.docx) on processing the data in GenomeStudio
2) Generate the GenomeStudio Report file (as required for by Zcall, parses this as input for both Zcall and Opticall rare callers):

	i) In GenomeStudio select 'Full Data Table' tab.
	ii) Click on 'Column Chooser' icon.
	iii) In Displayed Columns select 'Name', 'Chr','Position', and all your samples.
	iv) In Displayed Subcolumns select 'GType', 'X' and 'Y'.
	v) Hit OK then click on 'Export displayed data to a file' icon.

3) Copy the template.workflow.sh into a working directory
4) Edit the paths as indicated in this script for your installations of Zcall and Opticall etc.
5) Specify the datapath and basename variables for the GenomeStudio Report generated in step (2)
6) Execute the pipeline bash script.



About

Pipeline for running Rare Genotype Callers Zcall (Broad) and Opticall (Sanger) on Illumina Exome Chips to improve on standard Genome Studio Gencall calls

Resources

Stars

Watchers

Forks

Releases

No releases published

Packages

No packages published