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Somatic pipeline development branch #598

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ericblanc20 opened this issue Jan 23, 2025 · 0 comments
Open
10 tasks

Somatic pipeline development branch #598

ericblanc20 opened this issue Jan 23, 2025 · 0 comments
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@ericblanc20
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ericblanc20 commented Jan 23, 2025

The somatic pipeline should undergo major changes/developments. Many of these changes are inter-connected and break the current code (for example wrappers shared between steps, changes in panel of normals, ...).

For this reason, it would be helpful to create a development branch, specially for the large changes in development. This would protect the main branch from breaking changes and facilitate the pull request reviews: large changes affecting multiple steps could be split into logical chunks, even if they leave the whole of snappy in a broken state.

The current short term plan would be:

  • Create a somatic_cnv_calling step for both WES & WGS
  • Implement there support for cnvkit tool (including B-allele fractions)
  • Adapt the panel_of_normals step for the updated cnvkit wrappers (& potentially other necessary changes)
  • Include the other WES & WGS tools
  • Include ascat (an older implementation already exists in step somatic_purity_ploidy_estimate)
  • Revive somatic_wgs_sv_calling (I am not sure that a somatic_targeted_seq_sv_calling step is achievable)

Many of these actions are already in progress.

In the longer term (possibly outside of the scope of this issue):

  • Refactor the ngs_mapping step
  • Include a pathway_activity step for bulk mRNA expression
  • Refactor (somatic?) variant filtration using vembrane, and improve filtration guidelines
  • Revisit viral/bacterial/contaminant sequences detection
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