NGS-Var2017 Exercise.5

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ex05_wf.png

Intersect VCF files using the VCF_intersect module

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From here on, we use data obtained from the full-read set as performance and speed are no issues anymore for the class

The BWA 'mem' algorithms was used to align the NA18507 reads and generated BAM mapping fed to samtools+bcftools and to samtools+varscan to call variants. The resulting variants VCF-files were sorted, compressed, indexed are finally compared here using vcftools.

We will now identify the variant positions shared in both variant lists. The shared variants have more chance to be true than variant in a single caller output because our two callers are using different methods and therefore are biased differently.

  • start the VCF_intersect module and link the two VCF placeholders to the full VCF data stored on the server for the bcftools and varscan callers
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Take the files without gatk in the name
ex5_01.png
ex5_02.png
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The content of the intersect file is the part of File#1 overlapped in File#2 and therefore contains all fields from File#1
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In order to get the two caller annotation sets, you can run the tool a second time and permute the two datasets

The shared variants are now identified and can be annotated and screened for putative causative mutations as done in the next exercise

download exercise files

Download exercise files here

Use the right application to open the files present in ex5-files

References:

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