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I'd like to request a term for peroxisome biogenesis disorder 9B. There is another condition associated with this gene that is already in DO, rhizomelic chondrodysplasia punctata type 1. PEX7 may also…
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### Ask away!
Hello,
I downloaded human Nanopore data from NCBI. This MinION data is 79.72 Gb.
https://www.ncbi.nlm.nih.gov/sra?linkname=bioproject_sra_all&from_uid=553438
I searched this we…
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Hi,
I would like to use nanotatoR with my Bionano data (hg38). Based on the description of nanotatoR, I understand that it should be possible to use it with hg38 data. But in the extdata path only hg…
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Fedja updated
8 months ago
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## Describe the issue
Hi,
I am trying to add the information from Clinvar to VEP annotation. I downloaded the Clinvar VCF file from: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20231…
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* Start from test.vcf
* bcftools view -Oz -o compressed.vcf.gz test.vcf
* htsfile compressed.vcf.gz
compressed.vcf.gz: VCF version 4.2 BGZF-compressed variant calling data
* bcftools index co…
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ClinVar has released the first snapshot with the new 'flagged submission' review status. This is currently causing the upstream step between the ClinVar ingest process and the downstream reporting pro…
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@dazzariti
As per slack discussion 28th Sep.
Currently in the QA v3 sheet when Larry says a curated SCV has been updated, it **does not** consider within that VCV if other SCVs have been modified, …
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As part of our preparation for the third batch submission and an effort to harden the user workflow for reviewing and submitting batches to clinvar, a refinement task is needed to identify and close a…
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Hi, I can not reach some of the modules in the "inputs" module. The ones I can use are shown below. Is there another way to use the other ones?
![image](https://user-images.githubusercontent.com/…