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Update fusion-summary to include union of biospecimen IDs in fusion callers #478

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merged 15 commits into from
Jan 27, 2020

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Purpose/implementation Section

I am updating the fusion-summary module to produce files that include all samples that are included in the original fusion files.

What scientific question is your analysis addressing?

This is upstream of molecular subtyping of ependymoma tumors (#245) and non-MB, non-ATRT embryonal tumors (#251).

What was your approach?

In this pull request, I am changing the fusion-summary module to generate files that include any sample that was included in either original fusion file (Arriba or STARFusion), rather than just those in pbta-fusion-putative-oncogenic.tsv. The rationale is that annotated fusions can be included in this file if they were detected by either caller - they are not required to be in both.

See:

putative_driver_annotated_fusions <- fusion_calls %>%

And the table mentioned in #92 (comment) contains the following note:

Calls from only 1 caller will be retained if they contain a gene in TSGs,Cosmic,Oncogenic,TCGA fusion list 

I'm adding this note explicitly to the fusion_filtering README here because it tripped me up on #435.

I also converted the fusion summary script (01-fusion-summary.R) to a notebook (01-fusion-summary.Rmd) so I could better document some of the decision making

What GitHub issue does your pull request address?

Closes #477

Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.

Which areas should receive a particularly close look?

The steps for generating the fusion_summary* files, including the prepareOutput function

Results

What types of results are included (e.g., table, figure)?

Regenerated the following tables: fusion_summary_embryonal_foi.tsv and fusion_summary_ependymoma_foi.tsv.

Reproducibility Checklist

  • The dependencies required to run the code in this pull request have been added to the project Dockerfile.
  • This analysis has been added to continuous integration.

Documentation Checklist

  • This analysis module has a README and it is up to date.
  • This analysis is recorded in the table in analyses/README.md and the entry is up to date.
  • The analytical code is documented and contains comments.

jaclyn-taroni added a commit to jaclyn-taroni/OpenPBTA-analysis that referenced this pull request Jan 26, 2020
prepareOutput <- function(fuseDF, bioid) {
fuseDF %>%
reshape2::dcast(Sample ~ FusionName) %>%
bind_rows(data.frame(Sample = setdiff(bioid, fuseDF$Sample))) %>%
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@jashapiro jashapiro Jan 27, 2020

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This would be the same, correct?

   right_join(data.frame(Sample = bioid)) %>%

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Eliminate a "simply", make more robust to permissions, and fix a typo.

Otherwise, LGTM.

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@jaclyn-taroni jaclyn-taroni merged commit 0e642ef into AlexsLemonade:master Jan 27, 2020
@jaclyn-taroni jaclyn-taroni deleted the 477-missing-epn branch January 27, 2020 23:22
jaclyn-taroni added a commit that referenced this pull request Feb 3, 2020
* Make wording consistent, rerun

* Add notebook for combining CN, mutation data

* Add notebook to shell script

* Rename to reflect change in purpose

* WIP: adding RNA data

* Fleshed out HGG subtyping notebook

* Fix notebook name in shell script

* Change broad and short histology columns

* HGG -> DMG

* Rerun subsetting step

Changes appear to be related to removal of some samples from the stranded dataset between v12 and v13

* Response to @jharenza comments

* Remove outdated output file

* Update README for 07

* Use older version of annotated CNVkit file

* Handled fusions consistent with #478

* Rerun with v13 data

* Account for broad histology columns

* Rerun whole pipeline

* Use consensus CN files; rerun

* Was using the CI files last time

* Run copy number notebook with consensus calls

* Fix filtering step HGG -> HGAT

* Including the consensus CN calls was a little more nuanced

* Rerun final notebook with upstream changes

* Make sure notebook text is up to date

* Update CN files in modules at a glance

* Add other two K28M genes

* Additional 2 genes in cleaned mutation

* Response to @jharenza comments

* Update documentation

* Additional genes did not make it to documentation

* Fix typo in subtype lable

* Update analyses/molecular-subtyping-HGG/07-HGG-molecular-subtyping-combine-table.Rmd

Co-Authored-By: Candace Savonen <cansav09@gmail.com>

* Response to @cansavvy comments

Co-authored-by: Candace Savonen <cansav09@gmail.com>
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Missing ependymoma samples in fusion summary file
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