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### Need
As a geneticst, despite not having a matching normal sample for germline filtering, I want to be sure that all somatic variants I am interpreting are true somatic variants, and not germlin…
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Maybe draw some diagrams to explain this. I will do the below, but be able to configure it, and we can change before SA Path deployment if people think so
OK - a question about structural variants (d…
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This isn't a code based question. In the homework it states:
Extract the AF_EXAC data to determine the rarity of the variant
If the disease is rare:
return an a list of associated diseases
I…
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Hi,
I have a question about annotating with dbSNP. You write that you use dbSNP and gnomAD to annotate common variants, so do you filter dbSNP variants in advance for the ones that are not rare? Beca…
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E. g. something like this:
```
$ qdbus --literal org.freedesktop.portal.Desktop /org/freedesktop/portal/desktop org.freedesktop.portal.Settings.Read org.freedesktop.appearance color-scheme
[Variant…
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Hello,
As discussed by email, I would like to add the results of the following papers to the database. Could you please support me in this regards? Thanks.
1) A Genome-wide Association Study of …
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Hi Brent, first of all thank you for the work – Slivar, Mosdepth and Smoove are my go-to tools these days!
I'm currently analysing a rare disease in a cohort of singletons using long-read data, thu…
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Been trying to install LineageOS on my old Samsung Galaxy S5, but apparently I've got myself a rare variant of it... SM-S902L.
Tried to use the program but it came up with "Failed to load config de…
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**https://github.com/sars-cov-2-variants/lineage-proposals/issues**
To reduce the amount of work and to keep this page readable, we in the variant spotters community have set up via the impulse and…
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CHOP epilepsy panel for rare_variant file in vcfparser
[CHOP_epilepsy_panel.txt](https://github.com/ihelbig/vcfparser/files/1296314/CHOP_epilepsy_panel.txt)