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**Is your feature request related to a problem? Please describe.**
The splice region is based on the sequence ontology setting. However, ACMG 2021 recommends different settings.
**Describe the…
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hi Developer,
I am bioinformatic from illumina in China.
So many dragen-customers(E.g:The First Affiliated Hospital of Zhengzhou University, China Yixueke Xueyuan Hemopathy Hospital) try to use …
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As it is possible in the web interface.
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## Background
The GA4GH has defined an API in the schemas which provides interfaces to the common genomic data types. The data types are meant to be accessed over an HTTP API, and Ensembl, EBI, and U…
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### Need
As a clinician I want to be able to detect variants to a low allele frequency, as cheaply as possible, and with as few false positives as possible.
Using Sentieon Dedup from the new ve…
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### Submitter Name
Grace Pendlebury
### Submitter Affiliation
Shariant / Australian Genomics
### Submitter Github Handle
_No response_
### Additional Submitter Details
Shariant is…
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Wondering if there is a VarNote-REG and VarNote-PAT command line jar option? I don't see anything when using just the VarNote.jar file
```
$ java -jar VarNote-1.1.0.jar
USAGE: java -jar /path/to/…
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Hi Team,
We are getting below error while running API.
Variant-->/{version}/{species}/genomic/variant/{variants}/annotation
Version:
cellbase-4.7.0
Please, note that the database is up and r…
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Configuration file: github.toml
Description: VariantTools, software tool for the manipulation, annotation, selection, simulation, and analysis of variants in the context of next-gen sequencing analys…
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With pgscatalog-utils==1.4.1, I'm getting a new error running `pgscatalog-combine` with ~20 PGSCatalog scores. One example of a score that's newly causing an error is PGS003581.
Output from new ver…