google / deepsomatic

DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing data.
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Tumor-normal mode with rnaseq data #23

Open gianfilippo opened 5 days ago

gianfilippo commented 5 days ago

Hi,

is ti possible to run deepsomatic on matched tumor-normal rnaseq samples ? from a previous issue, it seems that the WES mode is the way to run this case. Is this tested ? In deepvariant the "customized_model" options is used to point to a a model trained using RNA-seq data. Could you please clarify ?

Thanks

kishwarshafin commented 2 days ago

Hi @gianfilippo ,

The best suited model for your use-case right now is the WES tumor-normal model. You can find the case-study here: https://github.com/google/deepsomatic/blob/r1.7/docs/deepsomatic-case-study-wes.md.

We have not tested our models on rnaSEQ data as we didn't have benchmarking data. The DeepVariant RNASEQ model is for germline variants and is not suitable for somatic variant calling.

gianfilippo commented 2 days ago

thanks. The lack of rnaseq benchmarking data is definitely a problem

On Wed, Sep 18, 2024 at 11:09 AM Kishwar Shafin @.***> wrote:

Hi @gianfilippo https://github.com/gianfilippo ,

The best suited model for your use-case right now is the WES tumor-normal model. You can find the case-study here: https://github.com/google/deepsomatic/blob/r1.7/docs/deepsomatic-case-study-wes.md .

We have not tested our models on rnaSEQ data as we didn't have benchmarking data. The DeepVariant RNASEQ model https://github.com/google/deepvariant/blob/r1.6.1/docs/deepvariant-rnaseq-case-study.md is for germline variants and is not suitable for somatic variant calling.

— Reply to this email directly, view it on GitHub https://github.com/google/deepsomatic/issues/23#issuecomment-2358739612, or unsubscribe https://github.com/notifications/unsubscribe-auth/ACPSFVGH2XPQVZJYMVAH5ELZXGJRLAVCNFSM6AAAAABOIIEZ5OVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMZDGNJYG4ZTSNRRGI . You are receiving this because you were mentioned.Message ID: @.***>