AlexsLemonade / OpenPBTA-analysis

The analysis repository for the Open Pediatric Brain Tumor Atlas Project
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#959 Lgat update hotspots #1076

Closed kgaonkar6 closed 3 years ago

kgaonkar6 commented 3 years ago

Purpose/implementation Section

What scientific question is your analysis addressing?

Rerun LGAT subtyping with hotspot+consensus maf

What was your approach?

Just add hotspot maf pbta-snv-scavenged-hotspots.maf.tsv.gz from hotspot-detection to the snv calls used for subtyping.

What GitHub issue does your pull request address?

959

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

Which areas should receive a particularly close look?

NA

Is there anything that you want to discuss further?

I didn't expect any rna samples update I think the changes got in here : https://github.com/AlexsLemonade/OpenPBTA-analysis/commit/a73f44025eaf4cc07e562685e147f0e5ddacaba3#diff-bc6801a8061034d6b8f1ee90ed5771b19185f2f03276e0760cfa181f226da626 seems to have removed BS_J6VKB1VE ( 7316-974 ) from lgat samples but I don't see description why the sample was removed in that PR.

The sample has pathology_diagnosis == "Low-grade glioma/astrocytoma (WHO grade I/II)" so should be added to the lgat fusion sample list.

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)?

tables

What is your summary of the results?

2 sample have been updated because of adding hotspot mafs 7316-2575 and 7316-32

  Chromosome Start_Position End_Position Strand Variant_Classification IMPACT Tumor_Sample_Barcode Hugo_Symbol HGVSp_Short SIFT DOMAINS caller
1 chr7 140781602 140781602 + Missense_Mutation MODERATE BS_V3ZNXRHK BRAF p.G469A deleterious(0.01) cd14062,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000,PROSITE_patterns:PS00107 mutect2;strelka2;vardict
2 chr7 140753327 140753336 + Frame_Shift_Del HIGH BS_F969DNHD BRAF p.V600Dfs*47 . cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 lancet
3 chr7 140753322 140753323 + Frame_Shift_Ins HIGH BS_F969DNHD BRAF p.S605Efs*7 . cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 lancet

Reproducibility Checklist

Documentation Checklist

kgaonkar6 commented 3 years ago

Thanks for the review! The fusion file shows that BS_J6VKB1VE was added in this PR because it seems to have been removed in a73f440.