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In GitLab by @nivedita2293 on Sep 19, 2020, 15:42
# Line item(epic)
1. Disease identification and detection
## Problem Statement -
### [sub-task1: Identification(Disease identification)](https://gi…
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This is not consistent with how "Hypertensive chronic kidney disease" is otherwise classified in the CDM, which is in the Hypertensive renal disease area (https://athena.ohdsi.org/search-terms/terms/2…
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In a recent case a known duplication was estimated as being 1000 basepair shorter than previously called. This resulted in annotsv missmatch to dbvar and gnomad which caused the variant to loose 6 poi…
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A recent study identified a syndromic neurodevelopmental disorder that may be caused by mutations in the ATG4D gene that needs to be added to the DO. This disease doesn't appear to have a name yet. It…
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This involves going through repos associated with work that we have done recently and adding those repos to the associated header on the research page. E.g.
- https://github.com/aaronger/utility-e…
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The disease locations disappeared for the majority of diseases in the last Platform version. This was raised by the contextual networks OTAR project trying to access this information.
Data that was…
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@ibrahimethemhamamci Thank you for your contribution to dental disease detection. However, I've encountered an issue. I've seen the values of 'label' in the annotation file of the test set as shown be…
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@katiermullen do you agree that these superclasses are correct for this term?
- is_a: MONDO:0024913 ! cattle disease
- is_a: MONDO:0024950 ! horse disease
- is_a: MONDO:0024985 ! sheep disease
-…
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One approach is to process the raw data into summary statistics of interest. For instance, define a list of disease types and pool all the studies for that particular disease. Then calculate the mutat…
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The [WHO List of Blueprint priority diseases](http://www.who.int/blueprint/priority-diseases/en/) includes ["Disease X"](https://en.wikipedia.org/wiki/Disease_X), described as
> Disease X represents…