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Hi,
I thought that I installed well but then I try: `./vep --help` and I got:
Can't locate Try/Tiny.pm in @INC (you may need to install the Try::Tiny module) (@INC contains: /Users/abelgd/Bioin…
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Hi, we would like to "register" some managed variants.
Where can I read how do they work?
How can I submitt them?
Sorry to bother you but I can not find the information myself in the Scout user …
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Dear,
I tried to add the dbSNP vcf file to the TileDB-VCF.
but I go the following error:
Segmentation fault
Here is the header of the file:
```
##fileformat=VCFv4.2
##fileDate=20210513
#…
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https://mp.weixin.qq.com/s/2Jey42bZuEGbltBVI5uG4g
ixxmu updated
2 years ago
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recently OMIM discontinued OMIM:145410 (Opitz GBBB syndrome type II) and moved it into OMIM:145420 (Teebi hypertelorism syndrome 1) because of new evidence that, according to OMIM, "Teebi hypertelor…
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Hi,
I am wondering the recommended gene annotation tools after SV calling, to estimate the SV effect on human genes mutation.
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https://mp.weixin.qq.com/s/-ezEMxSfWtGnKnYHqP6USQ
ixxmu updated
2 years ago
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Are there any plans to integrate the UKB RVAS/GWAS results from the [genebass](https://genebass.org/) and [AstraZeneca 300k](https://azphewas.com/) exome association studies?
Along those lines, I w…
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https://mp.weixin.qq.com/s/w-05bDmdyFC8j7DX6FOwkg
ixxmu updated
2 years ago
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**Is your feature request related to a problem? Please describe.**
We are concerned that well-established pathogenic variants might be missed in our standard filtrations if they are above our typical…