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Somatic and germline variants #784

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j0ntt opened this issue Mar 6, 2024 · 3 comments
Closed

Somatic and germline variants #784

j0ntt opened this issue Mar 6, 2024 · 3 comments

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@j0ntt
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j0ntt commented Mar 6, 2024

Hi,

Does DeepVariant attempt to distinguish germline and somatic variants?

If the VAF of a variant is low, will that mutation be then filtered out or does the tool report only variants of which VAF is close to 0.5 (heterozygous) or 1 (homozygous)?

@danielecook
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danielecook commented Mar 6, 2024

@j0ntt you should have a look at google/deepsomatic.

  • DeepVariant is a germline caller.
  • DeepSomatic is a somatic caller.

DeepSomatic will distinguish between germline and somatic variants.

@j0ntt
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j0ntt commented Mar 7, 2024

Hi @danielecook

Does this method have a tumor-only mode?

@danielecook
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Currently - no. But we may release a tumor only mode in the future.

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