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@KittyMurphy
@NathanSkene and I discussed whether congenital phenotypes should be excluded from the gene therapy target prioritisation pipeline.
@NathanSkene suggested that congenital phenotypes sh…
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For pathogens and host genotypes, many natural variants occur and for these, we want to capture the differences to some nominally WT variant. We need to be able to distinguish when a variant is na…
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The 'types' displayed for variants in their Overview page are not informative or understandable for most users. For example, for DARS, MET256LEU (http://beta.monarchinitiative.org/variant/ClinVarVa…
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In reference to this piece: Reference: https://github.com/pparsons/angular-chromosome-vis/
http://pparsons.github.io/angular-chromosome-vis/
- [x] get to work on the page as-is
- [x] add ceontromere…
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I was looking for an example disease with few phenotypes and so navigated up to [disease, DOID:4](http://monarchinitiative.org/disease/DOID:4) but found that the items underneath it were ... bonkers.
…
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being the cross-species people, i think it'd be great to add a high-level summary of the cross-species data that we have in our database. some basic statistics and/or fun facts.
we could include:
- …
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Hello, thank you very much for your help in previous questions.
I have successfully pre-trained this model on my own medical dataset. However, in the process of training, when the input data have…
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Two possible new final figures:
1) Which cell types are associated with severe phenotypes?
- Two row figure covering a) non-congenital phenotypes which always/often cause death, b) non-congenital p…
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Hi,
We have GWAS summary statistics for armfat percent, trunkfat percent, and waistc with the following columns (reformatted to fit MTAG defaults):
chr bpos a1 TEST n beta …
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on the page for noto:
http://beta.monarchinitiative.org/gene/ZFIN:ZDB-GENE-990415-75
the deficiency http://zfin.org/action/feature/view/ZDB-ALT-991201-146 is not showing up. not sure if this is a sc…