-
https://main-web.populationgenomics.org.au/ohmr3-mendelian/reanalysis/2022-08-29/summary_output.html
Sample [13Y03696](https://seqr.populationgenomics.org.au/project/R0025_ohmr3_mendelian/family_page…
-
_tl;dr
The current variant index has several shortcomings that affect our production infrastructure, our ability to update it to a newer GnomAD version and our ability to consider rare variants withi…
-
Hi,
In the AnnotSV version 3.3, the DGV annotations are not in the result, how can I reobtain it ?
![image](https://user-images.githubusercontent.com/12706146/138237320-fc361f9b-0938-4fde-9daf-b3e18…
-
**Preferred term label:**
_PNPLA6_-related spastic paraplegia with or without ataxia
**Synonyms**
N/A
**Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)**
…
-
Here is a link to GRCh38 file in gene COL9A3.
https://gene.iobio.io/?gene=COL9A3&genes=COL9A3&species=Human&build=GRCh38&affectedSibs=&unaffectedSibs=&rel0=proband&vcf0=https%3A%2F%2Fiobio.s3.amazo…
-
CH.1.1 sublineage with S:P681R in Austria, Germany (25 sequences)
**Description**: Sub-lineage of CH.1.1 with S:P681R
**Earliest sequence:** 2022-11-02
**Most recent sequence:** 2022-11-30
**Co…
-
Hey,
Finally I was able to run Spliceai on my server (after reinstalling conda). It uses 64CPUs but it's going really slow. Is there anything I can do to speed it up?
My VCFs have ~120000 variants. …
-
Defining mutations:
XAY.1.1+ORF1a:P1640S(C5183T)+S:D1153Y(G25019T)
https://cov-spectrum.org/explore/World/AllSamples/Past6M/variants?aaMutations=ORF1a%3AP1640S%2CS%3AD1153Y&nextcladePangoLineage=XAY…
-
## Describe the issue
Running VEP 104 on rs144217347 results in AF=0.999 , but this variant has a very low AF (more like 0.001 in 1KG). The continental AFs returnd by VEP are correct (AFR_AF etc...),…
-
To recreate:
* Get annotation run with error (ie set error_exception = "blah" and save)
* View it, click reload
* Error occurs during deletion - should only have that contig Q go in for Variant objec…