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Proposal for cancer reclassification #7042

Merged
merged 5 commits into from
Jan 12, 2024
Merged

Proposal for cancer reclassification #7042

merged 5 commits into from
Jan 12, 2024

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sabrinatoro
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Addresses #6533

@sabrinatoro sabrinatoro marked this pull request as draft December 14, 2023 20:15
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@nicolevasilevsky @cmungall (though Chris has already approved :-) )
Please take a look at this PR (with more explanation about the changes here).
This reclassification will be needed for ClinGen request-coming up next, to make sure that this plan works.

I updated the logical definition for "hereditary neoplastic syndrome" to be
'inherited disease susceptibility'
 and ('predisposes towards' some neoplasm)

This brought a lot of "cancer susceptibility" into "cancer predisposition" branch, which was requested by ClinGen
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this looks good to me. It will be great to get the expert advice, this is certainly a tricky area.

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I updated the logical definition for "hereditary neoplastic syndrome" to be
'inherited disease susceptibility'
and ('predisposes towards' some neoplasm)

This brought a lot of "cancer susceptibility" into "cancer predisposition" branch, which was requested by ClinGen

@cmungall @nicolevasilevsky do you see any reason why it is not a good idea to do so (or why it is wrong to do so)?

And I agree, we should ask experts about this! We will definitely run this by the ClinGen team, but we should have a bigger discussion about it... at one point.

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this looks good to me, all the terms that were auto-classified make sense.

@sabrinatoro sabrinatoro marked this pull request as ready for review January 12, 2024 00:53
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This PR was approved by Chris and Nicole, but the merging is still blocked. I am bypassing the branch protections and merging.

@sabrinatoro sabrinatoro merged commit b748f62 into master Jan 12, 2024
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@nicolevasilevsky nicolevasilevsky deleted the 231214-test branch April 15, 2024 16:45
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3 participants