-
**Is your feature request related to a problem? Please describe.**
The data in each file currently does not have much meta data on it.
**Describe the solution you'd like**
We should add "spec…
-
Hi,
After downloading exomiser 10.0.1 and 1802_hg19 dataset, I ran the NA19722_601952_AUTOSOMAL_RECESSIVE_POMP_13_29233225_5UTR_38 example. Everything went fine, except that in the output several v…
-
-
Name: James East
Institution: Harvard ACMG
In some regions, state vector aggregation fails with an error message like this if `GroupByCountry` is `True`:
```python
File "/var/slurmd/spool/slur…
-
Dear Geoffroy Véronique,
I have been using annotsv since its inception. Thank you for the great tool. Could you briefly explain the steps of how do you find the location of gene overlapping the st…
-
Currently getting the battery info will produce error: `keyNotFound(code: "BNum")`.
SMCKeys on Ventura 13.0:
```
#KEY
AC-B
AC-C
AC-E
AC-F
AC-I
AC-J
AC-M
AC-N
AC-P
AC-Q
AC-R
AC-S
AC-T…
-
When running _genonce.sh locally, I get these errors
```
No value set found at https://github.com/phenopackets/core-ig/StructureDefinition/acmg-pathogenicity-classification#Extension.value[x]:valueC…
-
Amanda Spurdle raised issue of if/how we plan to capture MAF/FAF as part of Population Frequency annotations, and/or as a separate type of annotation.
MAF = minor allele frequency (frequency of th…
-
We in Lund has made the following changes to Scout code base. For more information please look at [our fork](https://github.com/Clinical-Genomics-Lund/scout/tree/production).
- [x] Removed genome bui…
-
**Is your feature request related to a problem? Please describe.**
After implementaino of #77 we have AutoPP3BP4 class. Now we need to properly implement all the methods and test them
**Describe t…