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Add new CTF Synodos study #2138

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@anngvu anngvu commented Feb 17, 2025

What?

Fix #2137

Describe changes proposed in this pull request:
Adds community-contributed study described in #2137

checks

For all pull requests:

  • Passes validation

For a new study (in addition to above):

  • Does study name and study ID follow our convention? e.g. Tumor_Type (Institue, Journal Year); brca_mskcc_2015
  • Is the study meta data complete? e.g. pmid, citation
  • Were all samples profiled with WES/WGS? If not, is gene panel file curated?

Note: Mutations profiled with WES, but not all samples have mutations data. Should we remove ones with RNA-seq only?

  • Are oncotree codes of all samples curated; Cancer Type and Cancer Type Detailed needs to be added in addition to Oncotree Code
  • Clinical sample and patient data with meta files.
  • Mutations data with meta file.
  • Is the study based on hg38? If so, is the reference_genome: hg38 option included in meta study.
  • CNA data with meta files

Note: Not applicable, no CNA

  • CNA segment data with meta files

Note: Not applicable, no CNA

  • Expression data including z-scores with meta files
  • Other genomic profiles with meta files
  • Case-lists for all profiles.
  • Perform sanity checks based on the items in the checklist
  • Manual checking (Niki or JJ): Triage or private Portal link here

@anngvu
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anngvu commented Feb 21, 2025

@rmadupuri or @ritikakundra Where are we in the queue? What would be the expected timeline for review? (just to let some rare disease researchers and funders know) Thanks!

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Community contribution - new Schwannomatosis study dataset from Synodos Project by Children's Tumor Foundation
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