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Helpful to have in:
https://github.com/NCATS-Tangerine/cq-notebooks/tree/master/Orange_QB1_Benchmark_CQs/QB1.2_FA_Gene_Pathogenic_Variants
@TomConlin and @mbrush
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Currently multiple users have experienced the find second hit functionality to time out on any variant.
Steps to reproduce:
1. Use case https://varfish.bihealth.org/variants/f2acceb7-067d-41a4-8…
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### Project short name:
PathogenicVariantsCardiomyopathies
### Primary Wrangler:
Ida
### Secondary Wrangler:
### Associated files
* Google Drive: [folder](https://drive.google.com/drive/folders/…
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Hi, I am confused of the pathogenicity annotation of splice_site mutation.
In two articles recently published in NEJM, one classified splice variants affecting penultimate and the last exon as VUS or…
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### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI and an enginee…
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I m trying to install silve, and this tool tries to download and unpack **unafold-3.8.tar.gz**. But the links it is using seems to be not available anymore. Kindly provide the alternative link.
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We already identify these variant anyway, so it would be helpful to have the option of creating a filter vcf file with just the variants used for calculating frequencies for further analysis such as d…
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As part of adding a Provisional Evidence subtile, we want to add a description to the [Allele Frequency Reference Sets Tile help section](https://brcaexchange.org/help#allele-frequency-reference-sets)…
e-t-k updated
3 months ago
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...at least for candidate genes manually specified by name only; priority/evidence as in "5 star rating" or "not specified"/"little evidence"/"strong evidence" or [0..1] score
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collecting references and annotations --
1. [VarCover: Allele Min-Set Cover Software](https://www.sciencedirect.com/science/article/abs/pii/S1525157819304143)
>To facilitate reference-material s…