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#790 Part2: adding Fusion based subtyping for LGAT #843

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kgaonkar6
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@kgaonkar6 kgaonkar6 commented Nov 16, 2020

⚠️ #842 needs to be merged before this PR, 02-subset-fusion-files-LGAT.R and output can be reviewed independently though

Purpose/implementation Section

LGAT subtyping is being revamped as per issue. I'm diving into this with staggered PRs per alteration as:

What scientific question is your analysis addressing?

As per issue we will be subtyping LGAT based on fusion in the following genes:

  • LGG, KIAA1549-BRAF
    contains KIAA1549-BRAF fusion

  • LGG, other MAPK
    contains non-canonical BRAF fusion other than KIAA1549-BRAF
    contains RAF1 fusion

  • LGG, RTK
    harbors a fusion in ALK, ROS1, NTRK1, NTRK2, or NTRK3 or
    harbors a PDGFRA fusion

  • LGG, FGFR
    harbors FGFR1-TACC1 fusion
    harbors FGFR1 or FGFR2 fusions

  • LGG, MYB/MYBL1
    harbors either a MYB-QKI fusion or other MYB or MYBL1 fusion

What was your approach?

  • I used a list of genes to look for in presence of fusion or fused genes per subtype.
  • I'm using file from lgat fusion-summary , add fusion summary for LGAT #830 checks for kinase overlap and reciprocal fusion for LGAT biospecimen fusions.

The fusion status per subtype is saved as lgat-subset/LGAT_fusion_subset.tsv

  Kids_First_Biospecimen_ID KIAA_BRAF_fus MAPK_fus RTK_fus FGFR_fus MYB_fus

What GitHub issue does your pull request address?

#790

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

Which areas should receive a particularly close look?

We will have to review/push through #842 since SNV subtyping was done in the previous PR.

Is there anything that you want to discuss further?

Is the analysis in a mature enough form that the resulting figure(s) and/or table(s) are ready for review?

Yes

Results

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

lgat-subset/LGAT_fusion_subset.tsv

What is your summary of the results?

122 biospecimens have canonical KIAA1549--BRAF, 12 biospecimens have fusion in other MAPK genes, 14 biospecimen have fusions in RTK genes, 3 biospecimens have MYB fusion.
There are no FGFR1--TACC1 or FGFR fusion in the lgat biospecimen list.

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.

@kgaonkar6 kgaonkar6 changed the title Lgat add subtyping fus adding Fusion based subtyping for LGAT Nov 16, 2020
@kgaonkar6 kgaonkar6 changed the title adding Fusion based subtyping for LGAT #790 Part2: adding Fusion based subtyping for LGAT Nov 18, 2020
@kgaonkar6
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Closing this because unwanted tp53-classifier-score files got added to this PR

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2 participants