NGS-Var2017 Exercise.3

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BWA mapping QC using Picard tools, and Qualimap


ex03_wf.png

Each mapping is unique and can be biased by many unknown factors. Performing QC is essential in each experiment to avoid carryover of errors to the downstream analyses.

 

Perform mapping QC using Picard CollectMultipleMetrics

Picard tools include a number of valuable QC programs that can be used separately or with one single command triggering multiple tests as shown next.

  • start the Picard.CollectMultipleMetrics module and link the last BAM file from the previous exercise and to the human hg19 reference
ex3_01.png
  • fill additional parameters
ex3_02.png
  • wait and review the PDF and TXT results
ex3_03.png

 

Perform integrated BAM QC with the Qualimap GUI

start_analysis.png

Like what FastQC does for FastQ data, Qualimap can integrate several quality control steps of your BAM data in one go. Qualimap[1] is a platform-independent application written in Java and R that provides both a Graphical User Inteface (GUI, online help page) for the shy and hurried among you and a command-line interface (online help page) to facilitate the quality control of alignment sequencing data (PDF manual link). We next will show the use of the CLI version for basic BAM QC but as seen in the hidden documentation below, Qualimap proposes many more very attractive tools that are left for you to explore.


output.png

A QC on the sample BAM files can be performed in the GUI

The GUI run can be started as shown below

  • start Qualimap
ex3_04.png
  • link to files downloaded from the GenePattern server and run
ex3_05.png
  • review the results
ex3_06.png


Qualimap results saved on the BITS data server

  • the results of the analysis of the 10% sample are HERE
  • the results for the full chr21 data are HERE


 

download exercise files

Download exercise files here

Use the right application to open the files present in ex3-files

References:
  1. http://qualimap.bioinfo.cipf.es

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