Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Update nfosi jhu dataset #2035

Open
wants to merge 8 commits into
base: master
Choose a base branch
from
Open
Changes from 1 commit
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
Prev Previous commit
Next Next commit
Add README
  • Loading branch information
anngvu committed Jun 6, 2024
commit 334d2d98fd0645f00370f0e74d7fc5433e83d1dc
7 changes: 7 additions & 0 deletions public/nst_nfosi_ntap/README.md
Original file line number Diff line number Diff line change
@@ -0,0 +1,7 @@
## Notes

The patient cohort is from [The Johns Hopkins NF1 Biospecimen Repository](https://www.synapse.org/Synapse:syn53140231), which is an active biobanking project with rolling releases. It is funded by the [Neurofibromatosis Therapeutic Acceleration Program (NTAP)](https://www.n-tap.org/), led by Christine Pratilas, M.D., and David Loeb, M.D., Ph.D., with contributions from Angela Hirbe, PhD., and additional collaboration, data processing and data management by [NF-OSI / Sage Bionetworks](https://help.nf.synapse.org/NFdocs/about).

Patient raw sequencing data are generated by the institutional cores and shared on the secure Synapse platform with access restrictions. Sage Bionetworks does additional processing through the funded initiative described here: https://help.nf.synapse.org/NFdocs/data-processing. The [nf-core/rnaseq](https://nf-co.re/rnaseq/) workflow is used for gene expression from bulk RNA-seq and [nf-co.re/sarek](https://nf-co.re/sarek/) is used for somatic variant calling from whole exome sequencing (also for germline variant calling, but this is not shared on cBioPortal and only available on Synapse with access restrictons). After variant calling, variant annotation is done with [vcf2maf](https://github.com/Sage-Bionetworks-Workflows/nf-vcf2maf).

Sage Bionetworks then appropriately packages the processed gene expression and mutations data with approved clinical data for contribution to cBioPortal, also funded by NTAP. Full clinical data are not contributed due to IRB restrictions. Released patient samples are confirmed with Christine Pratilas through an internal process. Updates may be occasionally made. For questions about clinical data and collaboration, please use the most up-to-date PI contact instructions on the [project space](https://www.synapse.org/Synapse:syn53133024/).