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The new variant annotation data is available:
- JSON: `gs://ot-team/dsuveges/variant_index_new_json` (7.72 GiB)
- Parquet: `gs://ot-team/dsuveges/variant_index_new` (1.01 GiB)
- New data availa…
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As a **community user** I want **to be able to understand how the Gentropy ariflow pipeline works ** because **I want to reproduce it with nextlfow.**
## Background
Background to this task is a…
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Hi Brent,
Thanks for a really great tool. it's blazing fast!
I'm testing vcfanno to add GnomAD annotations for some WGS data. There's one GnomAD WGS VCs per-chromosome, so I have 23 separate [[ann…
drmjc updated
6 months ago
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Hi,
What is the best approach to annotate all the available variants in the VCF file with exomiser scores?
I am using this yaml configuration for the analysis. However, some of the variants are …
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The LoF project team have now shared their complete dataset with us for downstream use. The plan would be to add these data to the variant page (annotation).
I open this ticket for our own records an…
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A user wrote in asking about the allele numbers (AN) for this [variant](https://gnomad.broadinstitute.org/variant/3-10052405-G-A?dataset=gnomad_r4). I realized from their question that the non-UKB A…
ch-kr updated
1 month ago
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The latest Gnomad version is now 4.0.0
We are running version 2.1 for exomes and genomes, and 3.1 for mitochondria.
[Link to Gnomad download page](https://gnomad.broadinstitute.org/)
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### What you did:
I was checking a variant in Clinvar Variants section of gnomAD v4.
HGVS consequence shown in ClinVar variants section of gnomAD v4 is different from that of clinvar and gn…
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Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47
Constraint scores in the gene-centric tab are currently from ExAC via mygene.info. Note: based o…
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To be calculated by production team and added to Stats page after
Related: https://github.com/broadinstitute/gnomad_production/issues/1438