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Hello and thanks for the amazing software, we are using it in our repo and our alignments look great!
Some days ago I decided to try to load the bigbed tracks that UCSC is providing as clinvar trac…
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Hello,
I have annotated and loaded a VCF file. I have imported the dataset in Seqr. This worked without any issue.
Then, when I click on 'Variant Search', even if I put no criteria, I have this …
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A fair body of knowledge of pathologic variants that currently receive a poor rank is available. Let's implement a system for them, be that by annotation, ranking, separate collection in scout - or pe…
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I'm working a project that involves generating simulated homozygous variants and running them various callers, and it looks like Freebayes may have an issue accurately determining zygosity. About 20% …
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Clinical filter of release 4.19, 4.20 and current master doesn't work any more. (Well, it returns no variants, but if one clicks on "filter" immediately after, it works).
Thankfully (🙏) everything …
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I'm testing result of `vcfanno` for databases like hgmd pro which vcf may not be prefect.
I found that one variant may have multi record like:
```
##fileformat=VCFv4.2
##note=VCF file is compatibl…
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Why so large a share of articles from 2016 are missing DOI?
![image](https://user-images.githubusercontent.com/5832902/84658432-cef7bf80-af0d-11ea-9bcf-52b82835f6b7.png)
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Reported by @AsierGonzalez via email on 2020-07-07. EVA-2097
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As we have discussed a number of times, currently only the variants of certain clinical significance types (e.g. pathogenic and l…
tskir updated
4 years ago
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Hi! I noticed some bugs trying to run the pipeline!
1) cpsr toml file should have
```
vep_pick_order = "canonical,appris,tsl,biotype,ccds,rank,length,mane"
```
otherwise throws an error.
2)…
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**Describe the bug**
When we do variants search selecting Inheritance as 'Compound Heterozygous' and Pathogenicity as 'Clinvar -> Likely Benign' (for instance) then it crashes on the following line:
…