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Submission errors:
New submission from submitter that appears to have been intended to update this older submission
Submitter acknowledged an error and the submission will be updated or removed
I…
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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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For the [disease series by gene pattern](https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/disease_series_by_gene.yaml), we create terms that are labeled: [disease] …
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Have you planned to update your SV ranking according to the 2019 ACMG Criteria?
Thanks!
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We need penetrance data for assertions. Penetrance can be defined numerically, but more often is given some qualitative levels. In UNC's parsing of ACMG guidelines, these terms were picked out:
1)…
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_This question was raised by a registrant to the June 2, 2021 GHIF VRS Webinar. Here are the [recording](https://youtu.be/kS8Sr84-8do) and [slides](https://docs.google.com/presentation/d/1t8AEJ-QPRYaM…
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As part of our efforts to evolve SEPIO to support ClinGen variant interpretation data, we need classes for 'Population' types described in the [gnomAD/Broad](gnomad.broadinstitute.org/faq), [IGSR]( ht…
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Hi, THANKS a lot for providing this great tool for SV annotation.
The latest version (December 19, 2020: AnnotSV 3.0 is alive!) updated:
- Merge pathogenic SV annotation (from multiple sources)
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Hi all,
Hope you're all keeping safe in these unusual times!
I'm Algy Taylor - from the Manchester Centre for Genomic Medicine, UK. I've been working on a piece of software that pretty much fil…
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HI, I was running InterVar on the ex1.avinput. An error was reported like this:
Can't exec "coding_change.pl": No such file or directory at ./table_annovar.pl line 455.
Here is the line 455 of ta…