Question: Processing Whole Genome Sequencing data (shallow) and call Copy Number Variations
gravatar for Alejandro Jimenez Sanchez
9 months ago by
Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK

Dear all,

We are proposing a project where we want to perform shallow Whole Genome Sequencing (<1x) on DNA obtained from tumour FFPE human samples.

I have worked before with Whole Exome Sequencing and I have called SNVs and so on, but I haven't worked with WGS yet.

Does anyone know of any good tools and steps to get copy number variations from shallow WGS?

I haven't seen any paper that benchmarks tools yet, but if someone knows about this topic and could give some light in this, I would appreciate it very much.

ADD COMMENTlink modified 9 months ago • written 9 months ago by Alejandro Jimenez Sanchez120
gravatar for AlexRT
9 months ago by
AlexRT10 wrote:

If it's for germline copy-number variations, the 1000 genomes projects has called structural variations including copy number changes from individuals with ~7X WGS ( You can use GenomeStrip ( or Delly (, or Lumpy (

Since you have really low-depth WGS, the key is to have enough samples to pick up power for detecting variants in carriers vs non-carriers in the population. I never used <1x WGS for copy-number, but it might be harder to detect call copy-neutral variants such as inversions.

ADD COMMENTlink written 9 months ago by AlexRT10

It is for copy number variations in tumour tissues, so germline changes would be removed.

ADD REPLYlink written 9 months ago by Alejandro Jimenez Sanchez120

Oups forget the comment then.

ADD REPLYlink written 9 months ago by AlexRT10
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