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Hi,
I tried to run your test_data, but I got this error:
```
########################################################
###### SV-HotSpot v1.0.0 ######
####################…
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Hi,
I want to use Spades to assemble a ~40kb plasmid sequenced with Illumina Miseq (2X250nt). When I use the default option:
`spades.py -1 ../BWA/B13_vector_unmapped.R1.fastq -2 ../BWA/B13_vector_un…
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### Summary
Create a unified data model for disease knowledge. There is a wealth of information that can be associated with any disease: what phenotypes are manifested, the causative variants and t…
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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 recently noticed that regenie allows for variants to be part of more than one gene set, but does not accept multiple annotations for the same variant-gene pairs. i.e. something like
rsid1 gene1…
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When classifying variants in Scout the criteria are the same for all genes (but you can modify the strength of each criteria). ClinGen are publishing more and more gene-specific interpretations of the…
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As beacon is still falling in short to make comprehensive fusion queries, me and my colleagues have found a possible solution which I present here to be discussed for the Variants Scout.
The proposal…
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Hi,
thank you for providing such a fantastic tool! It’s exactly what I needed for integrating GWAS summary data with scRNA-seq data.
While using this tool, I encountered a question regarding th…
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Hello,
I am experiencing an issue while running the SvAnna CLI tool. I receive the following error message when executing the command:
ERROR o.m.svanna.cli.cmd.PrioritizeCommand - Error: Error rea…
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Mykrobe make-probes doesnot seem to like protein locus tag (e.g. Rv1979c) but ok with the name tags like rpoB; below is the error;
mykrobe variants make-probes -t gene.txt -g H37Rv.gbk rH37Rv.fasta …