-
Annotate input association and LD file with following datasets:
- [ ] [clinVar - UCSC table](http://ucscbrowser.genap.ca/cgi-bin/hgTables?db=hg19&hgta_group=phenDis&hgta_track=clinvar&hgta_table=clinv…
-
ClinGen and the experts that work on improving the ACMG Var Path guidelines have been considering a change to improve and clarify the term used between patient centric observations and variant centric…
-
### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI and an enginee…
-
We currently use the AMP/ASCO/CAP and ACMG (Mendelian cancer predisposition) guidelines to harmonize the somatic and germline variant classification, respectively. Unfortunately, both the ACMG and AMP…
-
Variant page in the Clinical Structural variants module: Is it possible to link to a fillable CNV classification template saved in Scout after filling in, as for the ACMG calssification in the SNVs/i…
-
There is no assertion method in the VCI, but we are going to hardcode ACMG for now, and assume that we'll find values in the future.
-
and would also be great to be able to retrieve and classify a variant via an API endpoint
-
The following annotations would be really useful for the non-redundant variants:
- overlap with genes
- repeat regions and segmental duplication regions
- overlap with known dosage sensitive gene…
-
**Question from an AnnotSV user:**
I am writing to you because we have annotated our SV tables with AnnotSV and we are not sure of in which case you consider that a benign inversion completely over…
-
Hi, I have run tapes annotate using annovar and acmg guideline succesfully, then I want to run tapes sort to get the result in tab format, however, when I run there's an error.
Command
```
python…