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in schema 'portal' and RE_000011
- [ ] upload save set with all participants from the 5 studies
- [x] compute occurences family for SD_NMVV8A1Y
- [x] compute occurences for SD_NMVV8A1Y
- [x] compute v…
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It has clinical value to note compound variants for cancer as a two-hit model, not only recessive disorders.
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Hi all!
I really enjoyed using this tool for visualizing clonal structures - thank you very much! The only thing that currently bugs me is that I cannot find which genomic segment is impacted by th…
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While most human population genomics datasets are now able to achieve >30x sequencing coverage on the regular, for a lot of non-model organism studies its becoming more popular to instead use low-cove…
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A user would like to pin interesting variants in scout that they observe in Gens.
Blocked by, https://github.com/Clinical-Genomics/scout/issues/4157
mhkc updated
7 months ago
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### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI and an enginee…
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While the `/filtering_terms` endpoint provides a standard way to inform about terms being used/queryable for a beacon there is currently no information about supported genomic variation query paramete…
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### Need
The number of SVs uploaded to Scout for WGS cases in balsamic is much higher than is common, and could really benefit from being reduced. As an example here are the some values from the mo…
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**Tool Details**
- Name of tool: Subread Align
- Tool homepage: http://bioinf.wehi.edu.au/subread/
- Tool description: A general-purpose read aligner which can align both genomic DNA-seq and RNA…
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HOME [tab] > Explore genomic data through the Viewer [heading] > View genome [button]
(Initially, there are "Variants", "Variants: FST - Global" and "Variants: FST - WAF; FST - EAF; + 4 more".)
(Ma…