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Hi I have an issue while trying to make a regional plot. I just a loaded in a GL-sumstats object of which I already did a ` basic_check()`. Before this I made a normal Manhatta…
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I m trying to install silve, and this tool tries to download and unpack **unafold-3.8.tar.gz**. But the links it is using seems to be not available anymore. Kindly provide the alternative link.
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Dear Mike,
Thanks for your previous help! I successfully run the tool on a human sample and get the output `IGHV_functional_allele_calls.txt`, but I am curious what does the output mean. Specifical…
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MetaDome is a tool that scores positions based on how sensitive the position is to changes. Similar to pLi but it uses the information from protein domains combined with variant frequencies. We should…
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Here are some suggestions for improving the filtering ui:
- [ ] Sliders as input for numeric inputs: frequency filtering, CADD scores and (not implemented) SV size for example
- [ ] Reduce size of Ge…
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Discussing with production last week during the retreat, came out that it's common practice to order a complete case re-run whenever users are interested in other panels or when a panel gets a few gen…
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Currently, gnomAD can only be browsed by Ensembl genes / transcripts. It should also support RefSeq genes / transcripts.
This only applies to gnomAD v3.1+. This requires VEP annotations with RefSeq…
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being the cross-species people, i think it'd be great to add a high-level summary of the cross-species data that we have in our database. some basic statistics and/or fun facts.
we could include:
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Create different kind of parser
- [x] Raw VCF
- [x] VEP
- [x] SnpEff
- [ ] Annovar
- [ ] Affymetrix
- [ ] MAF format
- [ ] Varank format
dridk updated
2 years ago