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This is a new xml based data source from nextprot - early in development, and open to feedback about how they structure their data. Have been working with Pascale Gaudet.
The data represent curated …
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Hi!
Our analysis and the design of Scout, for historical reasons, heavily rely on CADD. However, there are now several new in silico prediction tools available. The advantage of CADD is that …
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Hello,
I'm in need of some help with the following: Upon verifying the actual body content to be equal to the expected I run into the following issue:
- [x] test if Vcf…
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Variant annotations for consequence == 'intron_variant' are missing in the most recent releases. The variants are still present but are not annotated with a gene or consequence.
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This ticket aims to eventually be a master issue for tracking what's needed to support https://github.com/simdjson/simdjson. The idea is to support `simdjson` on the evaluator, while keeping the compi…
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VEP: http://uswest.ensembl.org/info/docs/tools/vep/index.html
Similar to the SnpEff annotation we have already, VEP is a tool to compute variant impact.
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### Description of feature
It's been a while since we looked into whats available in the field of SV annotations
- Short SVs under 1 kb,
- Mobile element calls from sniffles
- Classification of …
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Hi Andrew,
I just started using antigen.garnish for a VCF file I have, but it reported the error below that I cannot overcome.
`> garnish_variants("test.vcf")
Loading VCFs
Scanning file to det…