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왼쪽이 서버, 오른쪽이 제플린입니다.
몇몇개 수정이 필요한 부분이 있습니다!
- [ ] Disease name, Preva…
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> Millions of human genomes and exomes have been sequenced, but their clinical applications remain limited due to the difficulty of distinguishing disease-causing mutations from benign genetic variati…
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Hi, I've run InterVar on a testing data. The variant below was identified as likely pathogenic:
`chr17 41244106 41244106 C - BRCA1 exonic frameshift deletion clinvar:Pathogenic InterVar: …
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I am wondering if you can explain/look into how CADD scores are normalized to have a scale from 0-1 when used as a pathogenicity predictor. I have noticed that when I combine CADD with other tools, CA…
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We discussed building an extra layer of visualisation to the new Platform+Genetics pages, where possible.
One example is:
- [ ] Add color-coding of in-silico predictions (variant page), followin…
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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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Include:
- new disease terms or updates to DO's disease terms
there is a group of disorders termed 'RNA exosomopathies', which arise from pathogenic variants in RNA exosome genes
- include the…
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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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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…
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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…