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The phenotypic feature and disease search UIs shouldn't load the whole corresponding ontologies, and just do an API call on a per typed character basis and return a list of 10 options/terms
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Working on splitting out DOID:0050560 (Walker-Warburg syndrome) and DOID:0050588 (muscular dystrophy-dystroglycanopathy)
The OMIM IDs xref'ed to these DOIDs and to Fukuyama congenital muscular dystro…
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Dear StatgenSTA,
I am using your package for analysing field data including check genotypes.
## Create a TD object with the phenotypic data
td
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Hi, When I run python fetch_data.py --cfg configs/download_abide.yaml, There is no corresponding content in folder 50002 and an error is reported:
```
File "fetch_data.py", line 79, in main
ti…
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## Definition of done
Instead of querying ontology endpoints multiple times (everytime a component is loaded/reloaded) we should load all ontologies and relevant constants/terms/diseases/phenotypic f…
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OMIM's 'Hyperphosphatasia with mental retardation syndrome' phenotypic series [PS239300](https://www.omim.org/phenotypicSeries/PS239300) has not yet been added to the DO.
Note that it has been sugg…
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My first real run for ldweaver on 24 genomes
installed in WSL2Ubuntu
ran the sample set with no problems
did alignments with snippy-multi, verified.
commands at R prompt
library(LDWeaver)
setwd(…
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One design flaw of the NodeSynonymizer is that it will lump all things with the same name together. Consider this example:
```
NodeNamesDescriptions_KG1.tsv:HP:0008807 Acetabular dysplasia phenotypi…
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The difference between these "rare disease" vs "all available steps" options needs different language or explanation. Even going through it the steps look the same. I'm on http://35.229.81.196/creator…