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https://mp.weixin.qq.com/s/B1l_-1nsnVmW-uHoqD7Dow
ixxmu updated
2 years ago
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This is feedback from a customer with a wish about what to display on the first page for the SVs. There is also a question regarding filtering of SVs against databases.
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Jag sammanfattar här de…
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Thank you for the awesome tools!
As your team have recommended I am dealing with 7 WGS data from 2 different patients. I used the GRIDSS and Strelka for the optional input data.
I had no trouble r…
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#### What analysis module should be updated and why?
Update LGG subtyping module to include additional somatic NF1 variants and assess how many additional deleterious we find using the categories…
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1) Capture requirements from Heidi, Steven H. and Marina regarding the critical fields and needs for identifying discrepant Submissions (SCVs).
[Discrepancy Mock Up - Field Requirements](https://docs.…
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> Moved from https://github.com/macarthur-lab/gnomad_browser/issues/53
> Originally created by @anneodonnell on *Mon, 12 Jun 2017 15:22:31 GMT*
Add a warning on the gene page for ASXL1, DNMT3A, TET2.…
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https://www.nature.com/articles/s41591-021-01448-w
- [ ] [create an issue on datahub](https://github.com/cBioPortal/datahub/issues/new) before curating a study (one issue per study) and copy this c…
jjgao updated
3 years ago
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See https://github.com/EBIvariation/eva-opentargets/issues/203 and https://github.com/EBIvariation/eva-opentargets/issues/248.
As the uniqueness tuple of an evidence string we currently consider:
…
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#### Is your feature request related to a problem?
The fread() function in R library data.table has many features which are very usefull.
#### Describe the solution you'd like
### 1. An argumen…
b-niu updated
3 years ago
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Hello,
What type of VCF file should be used for CNV calling? VCF file containing germline or somatic variants, or both combined? Is there any specific variant caller that you would recommend in ord…