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The link currently goes to v3 in GRCh38
SAP have also asked for this to be patched back
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Hi
We're very pleased with vcfanno performance but we found some modifications in the final vcf that annoys us a little.
Basically, vcfanno rounds out "QUAL" to 1 decimal point (from 2 in the origin…
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Hi,
Any plans to update the gnomad frequencies to v4 (https://gnomad.broadinstitute.org/news/2023-11-v4-structural-variants)?
Regards,
Prasun
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# GREGoR next steps
## Use Case:
> As a GREGoR analyst, in order to `discover genotype to phenotype associations`, I would like to compare [CAF](https://github.com/ga4gh/va-spec/blob/1.x/sche…
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## Feature request
### Module(s) or script(s) involved
AnnotateVcf Module
### Description
Could we please add gnomAD allele counts in addition to the gnomad allele frequency?
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The Open Targets Platform has been using GnomAD 2.1.1 as an input for the genetic constraint data. [[PIS config]](https://github.com/opentargets/platform-input-support/blob/ce9365ffc77b394f4194a4e87e5…
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Review articles with lists:
* https://www.sciencedirect.com/science/article/pii/S0002929721000951?via%3Dihub
* https://www.nature.com/articles/s41580-021-00382-6
Websites with lists:
* TR-gnomAD's li…
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We are still using 3.1 for GRCh38, haven't generated one for new gnomAD 4
Code currently dies looking for this version, which means installing from scratch no longer works
Need to create a v4 GRCh38…
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Sub-ticket for gnomAD v4 update #47
The goal of this ticket is to do the "like for like" update of the VCI population tab from gnomAD v2 to v4 data, along with deprecating a few sections of the po…
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Hi,
With gatk 4.6.0 and Funcotator data sources v1.8, and output in VCF format, I'm seeing some annotations with strange character combinations inside of them:
"_%7C_"
"_%20_"
For example for on…
gevro updated
2 weeks ago