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Sorry to be an alarmist but several issues have existed for several days.
Issue 1
Load button grayed out unless a BAM or CRAM is provided. These were optional. Vcf is no longer sufficient.
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Previously issue #89 looked to make it possible to express compound het variation, however I did not fully appreciate our (Decipher's) situation.
The plan now is to revert #103, as it does not fulf…
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We utilize a fair amount of punning to simplify our data model and use existing ontologies as CVs for describing our data. The most common example of this is punning gene class IRIs in linking to th…
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Hi Prof. Xijin,
I am proposing to use iDEP for pathway analysis in a multi-omics model. We have RNA seq gene expression, DNA methylation and genetic variants SNPs data. I am wondering if I can use…
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**Assignee:** Ali Haider Bangash
The first step is to identify what data could be integrated through a knowledge graph and what is available. What did the other Hackathon teams accomplish? What is …
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Hello everyone, especially hg38 reference genome users!
Now bcbio has hg38 support for almost 5 years!
http://bcb.io/2015/09/17/hg38-validation/
However, many user were still on GRCh37/hg19, be…
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Hello,
It should be useful to be able to right-click on a variant in the IGV viewer and have an option to generate HGVS compliant nomenclature for a variant.
Thank you,
Dmitriy
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Hi,
I was just wondering how the _make_snpfile.py_ deals with annotations in different transcripts/genes of the same variation. Does the script only take into account only the first instance of the …
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The new variant annotation data is available:
- JSON: `gs://ot-team/dsuveges/variant_index_new_json` (7.72 GiB)
- Parquet: `gs://ot-team/dsuveges/variant_index_new` (1.01 GiB)
- New data availa…
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Hi,
I tried to run your test_data, but I got this error:
```
########################################################
###### SV-HotSpot v1.0.0 ######
####################…