-
**Describe the bug**
ClinVar information is missing for variants.
**To Reproduce**
Steps to reproduce the behavior:
1. Go to variant https://reev.cubi.bihealth.org/variant/chr2:219747090:C:A…
-
Hello,
When following the simple instructions to compile locally LIRICAL (as shown below), the procedure successfully completes with the "SUCCESS" tag for each build step, however the LIRICAL.jar e…
-
I am analyzing a cohort in which some samples are likely a rare kidney cancer known to be caused by germline nonsense or missense mutations in the FH gene followed by second hits or LOH. I was thinki…
-
Leave below as comments your memos that grapple with the topic of Pandemics, inspired by the readings, movies, & novels (at least one per quarter), your research, experiences, and imagination! Also ad…
-
Hello,
Benign allele frequency from GnomAD and other databases gives allele frequency starting from 0.01 and column with blank values. Does this mean these databases don't have allele frequency le…
-
REPLACED BY #350 AS OF 11-21-23
------------------------
Brought up by a curator for variant [CA415086302](http://reg.genome.network/allele/CA415086302.html). The curator reported seeing the REV…
-
Hi,
Thank you for the development and maintenance of this great tool! I've using the tool on a dataset for selected variants. Maybe because of selected variants, the cosine similarities for some p…
-
It seems that the current germline analysis is filtering out common SNPs via a GNOMAD filter here:
https://github.com/wustl-oncology/analysis-wdls/blob/773feeb3a02c90a5d0272e00232a4f1debb9bb3b/defi…
-
I'd like to request a term for amyotrophic lateral sclerosis type 24. It is associated with heterozygous mutations in NEK1. Homozygous mutations in this gene are associated with short-rib thoracic dys…
-
# Combined Annotation Dependent Depletion (CADD)
- [ CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome. ](https…