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Add the Mouse Missense Mutation Library (MML) https://jcsmr.anu.edu.au/services/libraries-banking/missense-mutation-library #493

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sierra-moxon opened this issue Aug 3, 2023 · 4 comments
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@sierra-moxon
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"This resource consists of mouse sperm lines for ENU-induced single-SNV mutations across more than 10,000 genes. In total there are over 250,000 SNVs that have been computationally predicted for effect and are available for study. Is this something that Monarch would be interested in having available to users?"

Please see: monarch-initiative/helpdesk#74 for more information.

@sagehrke
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sagehrke commented Aug 7, 2023

@monarch-initiative/monarch-internal Please take a moment to review this proposed ingest, make comments, and ask questions.

Once reviewed, follow these directions to vote:

If you approve of moving forward with this ingest, mark this comment with a 👍
If you reject the proposal, mark this comment with a 👎
Voting is open to all Monarch Internal and ends on August 28, 2023.

@sagehrke sagehrke added the Ingest label Aug 7, 2023
@joeflack4
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Just wondering how this would look in Mondo. Would we add/integrate info about all 10k genes as gene classes? Would we add all ~250k single nucleotide variants as some annotation property on those classes? Or their own classes? Probably not adding them ass classes, but FYI if we did, that sheer amount can cause memory issues with some of our tooling, like robot.

@matentzn
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matentzn commented Aug 8, 2023

This is for the Monarch KG, not Mondo!

@sagehrke
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sagehrke commented Oct 4, 2023

@putmantime Can you please comment and make the final decision on this ingest proposal? From previous discussions, it seems like this is not currently in our scope, but I would like to have a more detailed explanation as to why that is for reference later. Thank you!

@sagehrke sagehrke removed their assignment Jun 27, 2024
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