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Monthly / quarterly frequency?
File format?
Related to #462 , #473
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The [ClinGen SVI working group](https://clinicalgenome.org/working-groups/sequence-variant-interpretation/) recommend using a [points based system for calculating ACMG classifications](https://clinica…
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hi,
When I ran 'cargo test', it threw the attached error. (cargo version 1.64.0, CentOS7)
Looking forward to your reply, thank you.
Jun
error: failed to run custom build command for `trans…
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Currently all allele data is stored as a map of `string`: `float` in an `AlleleProperties` message. The size on disk for these is about 60 GB when unpacked (and even this is lightly compressed) and 40…
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Hi, I am trying to use your software for annotating variants according to ACMG criteria. I installed all the modules (apparently in the repo directory) and also the oc modules as described in the manu…
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Good day @lgmgeo,
I'm trying to understand the AnnotSV output for [this gnomAD SV insertion](https://gnomad.broadinstitute.org/variant/INS_2_10274?dataset=gnomad_sv_r2_1). Based on the allele count…
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I have a annotated VCF I split using bcftools split-vep
the cDNA, CDS en protein positions in the CSQ are:
`|8586-8599/9231|8523-8536/8835|2841-2846/2944 |`
The split vep output for those field…
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Is there a way I can ask exomiser to also output variants in the list of genes from the ACMG secondary findings list, irrespective of the given HPO phenotype?
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**Describe the bug**
ClinVar information is missing for variants.
**To Reproduce**
Steps to reproduce the behavior:
1. Go to variant https://reev.cubi.bihealth.org/variant/chr2:219747090:C:A…
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Hello,
Thank you for this tool, it's been a great help for analysing my data.
I have been running the bam files I generate from WGS through the lumpySV caller and then annotate the variants thr…