-
Dear authors of vcf2fhir,
We have genetic variants with VCF format. Your software is helping us to have the HL7 format, which our variants are included as `observations ` under `DiagnosticReport`. …
-
Hi,
I came across some unexpected behaviour whilst running a recent analysis. In my analysis, I'm using vcfR's is.polymorphic() command to tell me which SNPs in two population-subsampled VCFs are p…
-
https://www.ncbi.nlm.nih.gov/books/NBK1401/
-
As one can see for the following Item, Senior Theses Items imported from submissions for certificate programs are members of multiple collections, one being the departmental collection, the other bein…
-
@matentzn please do a SPARQL query to find all susceptibility of classes and remove superclass assertions to the the parent disease. For example:
MONDO:0012863 `attention deficit-hyperactivity diso…
-
For new term requests, please provide the following information:
## CBL-related disorder
The ClinGen RASopathy Expert Panel would like this term to replace the term:
Noonan syndrome-like disord…
-
https://www.medrxiv.org/content/10.1101/2020.12.24.20248822v1.full.pdf
-
I see a possibly relevant comment from biostars 3 months ago but the issue wasn't resolved on that thread: https://www.biostars.org/p/200262/#422658
**GCC version:**
```
$ g++ --version
g++ (De…
-
Hi Surag, Avanti, and Anshul,
Love the project here! I wonder if you wouldn’t mind giving me a hand getting the Basenji model to work. I expect it’s similar to BP-net in principal, but I’ve impleme…
-
In the 19.11 and 20.02 UniProt evidence file submissions there are seven invalid evidence strings because their variant type is "snp multiple", which is not one of the accepted values by the JSON sche…