-
Please find the below recommended updates to the CxG annotations of the Teichmann paper.PMID:34497389CxG annotation update recommendations (existing CL terms):
Author cell label | Author CL match | C…
-
Hello,
For the following variant in VCF format
`chr19 1219320 . CACGTATATG CCCG`
This represents a variant that looks like this
`CACGTATATGGTG REF
CCCG--------GTG ALT`
We hav…
-
Hi!
I used the following command to run the VarGen pipeline but I am getting the following error:
```
> disease_variants disease_annotation
-
**DO NOT INCLUDE REQUESTS IN THE FIRST COMMENT.**
**PLEASE POST THIS TEMPLATE UNCHANGED THEN FOLLOW ITS INSTRUCTIONS IN A NEW
COMMENT**
# General Notes
This repository serves as a mostly automated p…
-
### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI …
-
Variant annotation sets provide transcript effect data for variants. By creating summary statistics for a variant annotation set we gain some understanding of the distribution of coding vs. non-coding…
-
In quantitative genetics it is common not to treat alleles at a locus as equal. The "functional consequence" of each allele is important and the process for determining these consequences is well sta…
-
Question from user:
Based on sequence ontology stop_gained is a feature_truncation and inframe_insertion is a feature_elognation, could stop_gained and inframe_insertion be together?
o for example, …
-
The current GRCh38 RefSeq annotation (GCF_000001405.40-RS_2023_10) has [368 transcripts for BRCA1](https://www.ncbi.nlm.nih.gov/datasets/gene/id/672/products/) - up from 6 the previous version.
I c…
-
I've just reviewed the new NullableOnMethodReturnType recipe after receiving the latest release locally. To me it seems incomplete:
* It handles Nullable, but not the opposite annotation ("NonNull", …