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Copy-Number Enhancements - Ascat joint calling #1512

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maxulysse opened this issue May 7, 2024 · 0 comments
Open

Copy-Number Enhancements - Ascat joint calling #1512

maxulysse opened this issue May 7, 2024 · 0 comments
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enhancement New feature or request
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@maxulysse
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maxulysse commented May 7, 2024

Description of feature

From @seedgeorge

Hi there.
I think Sarek is in a good place with the current ASCAT implementation, but I'd like to point towards two things that I think would be helpful for the community.

  • A bigger request here, but one that I think is an obvious next step for the pipeline. Sarek currently supports multi-sample calling with Mutect2 (hooray!) and ASCAT also supports this feature, with the paper here and documentation here. It effectively uses both the logr and BAF tracks across all same-patient tumour samples to jointly find segments, helping a) breakpoint accuracy (particularly with smaller segments) and b) downstream interpretation of CNA data.

Kind regards,
George

@maxulysse maxulysse added the enhancement New feature or request label May 7, 2024
@maxulysse maxulysse added this to the 3.5 milestone May 7, 2024
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