-
Include:
- new disease terms or updates to DO's disease terms
this is a request for a new term to cover the syndrome described in PMID:36074901:
Mattison KA, et al. (2023) ATP6V0C variants impai…
-
Dear hadge authors,
thanks again for your help in advance!
I am running the genetic demultiplexing pipeline for multiple samples, with a sample sheet modelled after the example you provided.
…
-
Current URL gives a 404 - current URL https://pecan.stjude.cloud/proteinpaint/ALK/hg19/civic
Updating to this style will work - https://pecan.stjude.cloud/variants/protein-paint?gene=BRAF
But th…
-
Just an issue to collect any relevant papers. For example, there's a whole Genome Biology issue on graph genomes at
https://www.biomedcentral.com/collections/graphgenomes (also see "Pangenome Graph…
-
Feature request - Markduplicate
Hi, everybody. In the past, we developed a pipeline GATK to identify somatic variants from Illumina amplicon-based gene panel. Now we are changing our pipeline to a …
-
This is not strictly in the domain of Mondo but Mondo is where most people see this - e.g. when browsing for genes associated with breast cancer on the monarch site
OMIM has an entry
https://omi…
-
Good luck!
Requirements
```sh
apt install \
libdbi-perl \
libdbd-mysql-perl \
curl \
zip \
build-essential \
zlib1g-dev \
libmodule-build-perl \
git
```
-
Referring to Ensembl/VEP_plugins#638, it is found in `spliceai_scores.masked.snv.hg38.vcf.gz` that there are some variants having different scores (even they are having the same gene symbol), e.g.:
…
-
Hi I have an issue while trying to make a regional plot. I just a loaded in a GL-sumstats object of which I already did a ` basic_check()`. Before this I made a normal Manhatta…
-