-
We should look into this. Can we better order the list of variants to give users a good chance of clicking through the variants. Inheritance could be an initial step
-
- [ ] check the MAF's of variants (shouldn't be frequent) - can be done with VEP
- [ ] filter on expression
- [ ] filter/sort on the delta
- [ ] Check if the top variants are known cancer varian…
-
We get this type of question a lot: https://github.com/HGVSnomenclature/hgvs-nomenclature/discussions/177
The prioritization on the protein level is complex and can only be fully understood when mu…
-
During top [tasks performance testing](https://docs.google.com/document/d/1snexeKkagu5isGupYIEICzPOVcYhXXnkfIT2vBMQs7E/edit?usp=sharing) :lock:, a user commented that reading Arabic on the [language s…
-
In order to explore transcripts information related to each variant, especially to calculate scores, need to create a "transcript view". It can be another table or a view (e.g. "transcripts"), which e…
-
Interpretable prioritization of splice variants in diagnostic next-generation sequencing (2021)
[PMID: 34289339](https://pubmed.ncbi.nlm.nih.gov/34289339/)
Pre-computed files: https://squirls.r…
-
Here's the reproducible project:
https://github.com/clarkmcc/esi-rs
When building I get
```
thread 'main' panicked at /Users/.../.cargo/git/checkouts/progenitor-639bd64206ac5e43/2f32cde/progenitor-i…
-
Hello!
We have a few enhancement requests to make. Mainly concerning the outputs -
- HTML output to include variants of interest
- HTML output with population filtered variants
As it stands…
-
Dear gemini team,
I use gemini very frequently and it is an awesome tool for variant prioritization within large databases. However, one thing I could not find out yet is how to use the gt.alt.freq…
-
$ ./extasy.rb -i myfile.vcf -g ./geneprios/res/HP_0002863_fgs.tsv -k
2013-11-15 14:45:10 +0100: Sorting input VCF...
2013-11-15 14:45:10 +0100: Input VCF sorted...
2013-11-15 14:45:10 +0100: Finding m…