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UC 7. Genetic factors related to congenital heart defects (Manning) #7

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NoopDog opened this issue Jun 29, 2021 · 7 comments
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dissemination phase SYS INTEROP System interoperability use case

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@NoopDog
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NoopDog commented Jun 29, 2021

Interop Contact: Alisa Manning
Active in 2021: [Finished, Active, Inactive]
Researchers: Alisa Manning, Brian O’Connor, Timothy Majarian
Platforms: NHGRI AnVIL + Kids First DRC

Analysis Question: Investigate genetic factors related to congenital heart defects in a study design that uses healthy controls from two NHLBI cohorts. Perform pooled analysis on AnVIL powered by Terra.

See more details in this slide pack.

@NoopDog NoopDog added the Epic label Jun 29, 2021
@jackDiGi
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I believe this one is finished and Tim is working on a methods publication, but we should confirm (@briandoconnor)

@jackDiGi
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jackDiGi commented Sep 3, 2021

If I understand correctly, this use case has finished successfully. Should we close it @linikujp & @NoopDog ?

@linikujp
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linikujp commented Sep 4, 2021

This one is in the milestone of developing training material. @briandoconnor is working with the researchers to write the paper.

@cottonva
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cottonva commented Sep 8, 2021

I think this is complete

@linikujp
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linikujp commented Oct 18, 2021

Tim will prepare a pre-print.

@linikujp linikujp changed the title 7. NHGRI AnVIL + Kids First DRC + NHLBI BioData Catalyst UC 7. NHGRI AnVIL + Kids First DRC + NHLBI BioData Catalyst Nov 5, 2021
@jackDiGi jackDiGi added the SYS INTEROP System interoperability use case label Nov 16, 2021
@NoopDog NoopDog moved this to Complete in NCPI Use Case Tracker Dec 3, 2021
@NoopDog
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NoopDog commented Feb 3, 2022

Hi @jackDiGi @linikujp @briandoconnor any update on the preprint for this from Tim M?

@NoopDog NoopDog changed the title UC 7. NHGRI AnVIL + Kids First DRC + NHLBI BioData Catalyst UC 7. Genetic Bases of Congenital Heart Defects (Manning) Feb 4, 2022
@NoopDog NoopDog moved this from Complete to Training Material Dev in NCPI Use Case Tracker Feb 4, 2022
@NoopDog NoopDog self-assigned this Feb 4, 2022
@NoopDog NoopDog changed the title UC 7. Genetic Bases of Congenital Heart Defects (Manning) UC 7. Genetic factors related to congenital heart defects (Manning) Feb 8, 2022
@NoopDog
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NoopDog commented Feb 9, 2022

HI @briandoconnor this use case is listed on the NCPI Demonstration Projects here

https://staging.anvilproject.org/ncpi/demonstration-projects/genetic-factors-related-to-congenital-heart-defects-manning

Any feedback you have is appreciated.

Cheers,
D

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dissemination phase SYS INTEROP System interoperability use case
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