-
Hey guys, thx for the great tool!
I was just wondering whether I have missed something or is there just not more documentation on the output files available?
My specific questions:
1. **event_a…
-
-
The definition states, at the end, that an isoform may differ from other variants owing to post-translational modification. Is this intended to mean exclusively proteolytic cleavages, or does it inclu…
-
'Models' are animals or cell line systems that can be used to study a particular condition or disease. An entity is asserted to model a disease using the is_model_of relation (RO:0003301) - and in th…
-
Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
-
## Describe the issue
We have variants on the chrY contig that get annotated with the "NLGN4X" gene, while this gene is located on chrX.
This gene is not in the PAR regions.
A similar gene "NLGN4Y…
-
Hi @kkdey,
I have following questions on GSSG pipeline. It is great if I can hear when you have a chance.
1. Regarding the generation of gene program .txt file from .csv. https://github.com/kkde…
-
I was wondering if it's possible to obtain the chromosome and position by idx using pgenlibr, or if it is possible to add this feature?
Thanks so much. The pgenlibr is really useful for an R user…
-
Support concordance visualization and querying (intersection, union, etc) between N VCFs on the /examine page.
-
Some MGI symbols are not rendering correctly on the variant summary pages. For example:
https://monarchinitiative.org/phenotype/GO:0006915PHENOTYPE#variants
On the above page, there are a mix of…