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**Describe the bug**
The saved recessive restrictive and permissive searches appear to (and were intended to) have a gnomAD allele frequency cutoff of 1%. However, after running these searches, many …
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This was discussed at our analysts meeting on Dec 16. We are available to discuss this with you if needed.
For the next gCNV exome data that will next be uploaded
1. Annotate each CNV variant w…
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Would it be possible to include in annotated results frequencies from SV databases? It would help to better assess some events.
Thanks for your help and for your useful software.
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MOAlmanac is a cancer variant knowledgebase from BROAD/Dana-Farber with 820 assertions.
The API documentation is here: https://app.swaggerhub.com/apis-docs/vanallenlab/almanac-browser/0.2#/
Con…
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## Describe the issue
thanks a lot for continous update of vep, does vep support CADD and MutationTaster
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Hello, I noticed that when I do not use frequency filter, there is no information about dbSNP ID and variation viewer in all prioritized variants found by Exomiser. Why does this happen?
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**Is your feature request related to a problem? Please describe.**
SpliceAI is an in silico score that denotes variants that may impact splicing. It's different than the other scores which we largely…
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Hi,
I am dealing with some SVs that I detected using long reads (Oxford Nanopore). In order to prioritise variants, I was using VEP and SnpEff to add functional annotation to my SV sets. I had also…
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Hi,
I’m a bioinformatics masters student working at the Stanford UDN, and I’ve been looking at the frequencies of SVs that have been identified as causal in Stanford UDN patients. While most of them …