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Reconceptualized biosample data collection #395

Merged
merged 14 commits into from
Feb 29, 2024
Merged

Reconceptualized biosample data collection #395

merged 14 commits into from
Feb 29, 2024

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anngvu
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@anngvu anngvu commented Feb 2, 2024

Initial work on #334. Cross-check with https://dash.harvard.edu/bitstream/handle/1/32725809/Neurology-2016-Hanemann-S40-8.pdf?sequence=1&isAllowed=y.

These templates require a lot of changes in workflows that want to adopt them. I think switching over wholesale for NF is going to be difficult to manage because it's very different from HTAN/Gray Foundation, so I think the original idea was to selectively offer/pilot this for just 1-2 projects that might actually benefit.

This is a prototype (not production use yet) that we merge but need to followup with additional work of setup + testing and understand where to refine things as needed:

  • Set up of a folder called "Biosample" or "Clinical Data" so data could be stored there.
  • Set up and test implementation of cross-validation/linkage.
  • Figure out how to extract clinical data so somehow so they still show up in the portal.

If above goes well, we'll actually:

  • Advertise this new feature to the community and funders such as NTAP.
  • Select and discuss rollout for projects that are a good fit for this.
  • Add docs/educational materials for contributors on how to use this new and workflow.

The preview links to review are mainly:

  • HumanIndividualTemplate
  • AnimalIndividualTemplate

So if you think these aren't great names for the templates, I based them on ADKP (though for Gray Foundation, HumanIndividualTemplate ~ CohortCoreTemplate, which I think sounds better). We can discuss the best template naming as well.

Update:
@cconrad8 is primary reviewer.

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github-actions bot commented Feb 2, 2024

Test Suite Report

Template Generation

template result link
AnimalIndividualTemplate 😄 template link
BiospecimenTemplate 😄 template link
ClinicalAssayTemplate 😄 template link
EpigeneticsAssayTemplate 😄 template link
FlowCytometryTemplate 😄 template link
GenomicsAssayTemplate 😄 template link
GenomicsAssayTemplateExtended 😄 template link
HumanCohortTemplate 😄 template link
ImagingAssayTemplate 😄 template link
LightScatteringAssayTemplate 😄 template link
MRIAssayTemplate 😄 template link
PharmacokineticsAssayTemplate 😄 template link
PlateBasedReporterAssayTemplate 😄 template link
ProcessedAlignedReadsTemplate 😄 template link
ProcessedExpressionTemplate 😄 template link
ProcessedVariantCallsTemplate 😄 template link
ProteomicsAssayTemplate 😄 template link
ProtocolTemplate 😄 template link
RNASeqTemplate 😄 template link
ScRNASeqTemplate 😄 template link
UpdateMilestoneReport 😄 template link
WESTemplate 😄 template link
WGSTemplate 😄 template link

Manifest Validation

manifest result expectation
GenomicsAssayTemplate_0.csv 😄 Lists can be blank if attr not required using ‘list like’ rule
GenomicsAssayTemplate_1.csv 😄 Mixing blanks and regular list values works
GenomicsAssayTemplate_2.csv 😄 Conditional validation for attributes is currently not supported
ScRNASeqTemplate_0.csv 😄 Single list val works by using ‘list like’ rule
ScRNASeqTemplate_1.csv 😄 Fail because of missing data in required field libraryStrand

@anngvu anngvu marked this pull request as draft February 2, 2024 17:57
@anngvu anngvu requested review from allaway and cconrad8 February 19, 2024 18:29
@anngvu anngvu marked this pull request as ready for review February 19, 2024 18:30
@cconrad8
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Nice! it looks like Manifestation Enum was already used here? so the drop downs in the google sheet are showing up with the manifestations rather than what was intended?
image

@cconrad8
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And just as a note here that in Gray Foundation the structure is
'Data' > 'Patient Cohort Data'> 'synapse_storage_manifest_cohortcoretemplate.csv'
in case we want to do something similar

modules/Sample/Diagnosis.yaml Outdated Show resolved Hide resolved
@anngvu anngvu requested a review from cconrad8 February 27, 2024 16:17
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@allaway allaway left a comment

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We discussed this in our 1-1.

Key takeaways:

-this is great!
-let's consider pilot this manifest in the Sarin project and in Batch 5 of the NF1 biobank project (cc @jaybee84 )
-let's take a look at the 2023 Sundby paper for any updates that we could incorporate
-let's share with NTAP to see if we can align/adopt parts of their clinical data model
-let's get feedback from Sundby and Rhodes on the NF1 CDM slack
-consider changing name of manifest as described in PR text (prefer Cohort over HumanIndividual)
-this is good to merge as-is and then we can update after feedback

@anngvu anngvu merged commit bb6dca2 into main Feb 29, 2024
@anngvu anngvu deleted the feat/biosample branch February 29, 2024 03:23
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4 participants