/tso_cnv

Copy number variation detection for TruSightOne capture

Primary LanguageR

DEPENDENCIES

SOFTWARE
  • perl
  • R version 3.1.1
  • bwa
  • bowtie2
  • picard-tools
  • samtools
PERL PACKAGES
R PACKAGES

Step 1: Download source from GitHub

> git clone https://github.com/getiria-onsongo/tso_cnv.git tso_cnv

Step 2: Navigate to parent directory

> cd tso_cnv

Step 3: Download generic MySQL source code

> wget https://s3.msi.umn.edu/CNVMySQL/mysql-5.6.24-linux-glibc2.5-x86_64.tar.gz

*Original mysql source from here

Selected options for Linux - Generic, compressed TAR archive.*

Step 4: Navigate to directory that will contain base MySQL tables

> mkdir tso_tables > cd tso_tables

Step 5: Download and uncompress MySQL base tables

> wget https://s3.msi.umn.edu/CNVMySQL/mysql_tables.tar.gz

> tar xzvf mysql_tables.tar.gz

Step 6:

Edit my.cnf to specify MySQL configurations appropriate for your system. Default setting assume a machine with at least 64GB of RAM. The file my-small.cnf contains example values for a smaller machine (at least 5GB of RAM). For more details on editing MySQL option file see

Step 7:

Edit configuration file (config_template.ini) to specify expected input values. Note, The program assumes your data was sequenced on two lanes and expects four fastq files for both sample and its matched control.

Step 8: Generate PBS script to run program on cluster.

> cd ..

> sh launcher.sh config_template.ini

NOTE: The template PBS script is in "template/run_sample.pbs". Edit this template to conform to your clusters settings

Step 9: Submit job to cluster

> cd sample_name

> qsub run_cnv_sample_name.pbs

NOTE: sample_name is the name of the sample being analyzed which is specified in the configuration file (config_template.ini)