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**Background**:
- [Genome Nexus](https://www.genomenexus.org/) is a comprehensive resource integrating variant annotations from more than a dozen sources relevant to cancer. The annotations can be a…
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The examples in the existing DASH-HLS spec (CTA5005) that show Low Latency (Figs: 5.10, 5.11, 5.13) use `#EXT-X-VERSION: 7` but it seems that should be `#EXT-X-VERSION: 10` (or 9) since the low latenc…
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It might be good to clarify (in the vignette / docs) when the time-varying CFR applies as it affects the interpretation. If it's due to e.g. a new variant or cases moving into different age groups thi…
sbfnk updated
6 months ago
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Hi,
thank you for providing such a fantastic tool! It’s exactly what I needed for integrating GWAS summary data with scRNA-seq data.
While using this tool, I encountered a question regarding th…
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Do vg filter out some variants during the construction of the pan-genome, and if so, what are the criteria for filtering? The number of variations in the pan-genome is reduced compared to the variatio…
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We need to export Variant Information including Interpretation from Varfish into a database for bookkeeping and at some point for creation of reports.
This process is also currently used to create …
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Hi Jody,
We were sequencing CDC's MPEP samples using their varpipe TB pipeline and for one of the samples their pipeline did not pick up Rifampin resistance of rpoB_p.Pro454Ser; CDC confirmed that …
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As we have finished implementing the updated logic for how variants are interpreted and location inferred by studying local assembly contig alignment signatures, it is time to clean up the correspondi…
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Add a new "Submission Accession" column at the end of the "All interpretations for this variant in the Variant Curation Interface (VCI)" table.
This should display the SCVs for the current interpre…
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At the most fundamendal level there are at least few ways to interpret link structure:
1. As a state:
a) The Source is reference to all previous (past) states. So the Target is a current or final…