Structural variation germline vs somatic ?
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4.7 years ago
Picasa ▴ 650

Hello,

I have tried multiple tools to call structural variants like Manta, Delly etc. They all have a germline or somatic mode.

I couldn't find this information anywhere but anybody know how these structural variant callers determine how a variant is a germline or somatic one ? What are the criteria ?

Thanks for your answers.

structural variation germline somatic • 1.2k views
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do you have paired normal-tumor samples ?

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I am working with a non model species and don't have a normal-tumor samples.

But rather 2 haplotypes, and I am expecting one haplotype (let's call it hap B) to have a specifc inversion. Do you think I can "transpose" it like a normal-tumor samples so that would be hap A for normal and hap B for tumor ?

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4.7 years ago
metinyazar88 ▴ 10

This is a very controversial topic but you can read this article => https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502642/ Especially last figure of the article can hep you.

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Thanks for your paper. Very interesting.

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