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Transition/Transversion Ratio From Fastq Files

Hi,

I was doing QC for my paired-end exome data which is in FASTQ format. I used FASTQC for the QC but I am more interested in looking at the Transition/Transversion ratio. Is there any tool that can give us the transition/transition ratio?

Thanks

fastq fastqc qualitycontrol qc exome exome-sequencing

Don't you need to compare similar sequences (then assumed as homologous) to derive substitution type estimates?

I am very confused, fastq gives you raw sequences. to get transition/transversions, you need aligned reads to a reference.

3 answers

You're several steps short of looking at Ti/Tv ratios. I'm going to talk about this in the context of cancer, because it's what I'm most familiar with. Your steps will be something like:

  • use an aligner (like BWA) to align both your tumor reads and normal reads to the reference genome.
  • Use a variant caller (samtools, Varscan, strelka, etc) to identify somatic snvs
  • determine whether each of these sites was a transition or transversion, then calculate the rates.

Thanks Chris. So which tool you think can be used to calculate the ti/tv rate?

Perfect. Thanks :)

Also, you may know this, but worth saying, Ts/Tv varies between species (not sure what species you are using).

I am using Human sequence data

If you have vcf file to annotate use snpEff and in the html report it will show amongst other things the ratio you want.

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