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**Submitting author:** @lincoln-harris (Lincoln Harris)
**Repository:** https://github.com/czbiohub/cerebra
**Version:** v1.2.0
**Editor:** @lpantano
**Reviewer:** @betteridiot, @afrubin
**Archive:** …
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_Reported by @AsierGonzalez via Slack on 2020-09-14_
Hi Kirill, I have a couple of questions for you. The other day I was looking into some variant in ClinVar and I realised that the value of Origi…
tskir updated
4 years ago
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Three questions or comments about global comments and classifications:
1. Are global comments shared between rare disease and cancer tracks? i.e. is it tied to variants regardless of track?
1. I…
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Reported by Wei Kheng Teh;
While converting an LOVD2 file to the LOVD3 format:
```
Warning: linked "Variant/DbSNP" to non-existing column "VariantOnTranscript/DbSNP" in output section "Variants_On_…
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I noticed while testing the RAG1 patient VCF (as described in #528), that the first time it generated 6 diagnoses with > 95% posterior probability (4 with 100% posterior probability), none of which wa…
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For the 1909 variant builds we attempted to regenerate the clinvar whitelist files but ran into issues when testing and reverted back to using the old 1902 files. Variants drop in and out of the clinv…
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**Version info**
- bcbio version (bcbio_nextgen.py --version):1.2.3
- OS name and version: Ubuntu 18.04 bionic
**To Reproduce**
- Exact bcbio command you have used
> bcbio_nextgen.py -t lo…
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**Description**
I am new to bactopia and following the posted tutorials. In an early step to install bactopia datasets, I did the following:
conda create -y -n bactopia -c conda-forge -c bioconda …
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I've gone through 2 of our rare disease cases affected by the reupload due to missing ClinVar significance info. Below is a list of new variants with score >=10 in each case. All these new variants ar…