-
Thank you very much for sharing the analysis code! I have a question about a detail seems not to be involved in these manuscripts or published papers.
![image](https://github.com/plantformatics/ma…
-
# Rationale
MaveDB currently uses a single keyword field that can be populated with user-specified keywords. However, many of the entries are blank or have keywords of little utility (e.g. target g…
-
**Is your feature request related to a problem? Please describe.**
We can currently (only) provide a PED file for describing a case. It would be very helpful to augment this as we currently alrea…
-
The modelling discussed in #1 could be improved. As suggested by @nlwashington, here is another way to model these relationships:
```
Monarch:DiseaseID is an OWL Class
Monarch:Disease rdfs:l…
-
To provide variant level metadata for the new variant page, variant annotation needs to be generated for all variants we have any phenotypic information. We decided to drop GnomAD as a source of varia…
-
Hi there,
I am working on a dataset from "Cross-tissue immune cell analysis reveals tissue-specific features in humans" [Domínguez Conde et al. Science. 2022.](https://www.science.org/doi/10.1126…
-
OMIM Phenotypic Series - PS236100
-
https://arax.ncats.io/?source=ARS&id=0c5747a0-f16a-4007-88af-0f87770dcff7
![image](https://user-images.githubusercontent.com/83781286/124965973-b4005d80-dff0-11eb-9ade-1bc32efb7e5c.png)
-
It would be useful if MONDO included a way to distinguish between a disease entity and a disease grouping. Currently the only way to do this is to check for subclasses/types of a disease; however, th…
-
We need an update on the ISATab configuration to fulfil the latest version of the MIAPPE recommendation in version 1.1.