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Calculates 'VUS - criteria not met' instead of 'Pathogenic' when number of PVS codes is more than 1
https://github.com/AWGL/variant_classification_DB/blob/9a4e599dd2924057a0e38386a0650df59cbadeee/a…
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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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ACMG uses as evidence of pathogenicity the fact that a particular variant is nonsense coupled with the fact that LOF variants are known mechanisms of disease. We need a set of terms to use for mechan…
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Hello,
I'm annotating a merged output from MELT, and I'm getting full annotations but not seeing any AnnotSV ranking scores or criteria.
I'm using the latest AnnotSV (3.0.7).
Thanks!
Phil
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On Variant Details page we should show:
* variants on the same codon.
* same exon or +/- X AA away
* Same protein domain
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Very useful for ACMG classifications involving hotspot…
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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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Error in collapse_object(objnames, tmp, indent) :
R character strings are limited to 2^31-1 bytes
Calls: ... .local -> vapply -> FUN -> FUN -> .local -> collapse_object
Execution halted
I'm …
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@bpow @cbizon
Not sure if "headless" is a great term but a real eye-catcher.
In our Criterion examples we did capture the "strength" that the assessed criterion would have if and when it would …
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Related to #69 .
One of the modifiers for inheritance that the VCI uses is "Genetic Anticipation". It has an HPO code, and it descends directly from mode of inheritance. Genetic Anticipation i…
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We need to periodically generate a file that will be included in the clinvar-submitter docker container, and will be used to supplement all non-novel clinvar submissions with the proper SCV ID.
The f…