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Hi Joelle,
I hope you're well. I'd be very grateful if you could please help me with a confusing issue in burden testing where variants from certain gene sets are:
- present in the same chromosome…
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before we had [OMIM ID](http://edamontology.org/data_1153) and [HGNC ID](http://edamontology.org/data_2298), now you substituted HGNC ID with something broader [Gene ID](http://edamontology.org/data_2…
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We noticed in the portal on the same protein location, we have different reference AAs.
Here is the link to all KIT samples in MSK portal. [**LINK**](https://cbioportal.mskcc.org/results/mutations?Ac…
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Previously issue #89 looked to make it possible to express compound het variation, however I did not fully appreciate our (Decipher's) situation.
The plan now is to revert #103, as it does not fulf…
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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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**Assignee:** Ali Haider Bangash
The first step is to identify what data could be integrated through a knowledge graph and what is available. What did the other Hackathon teams accomplish? What is …
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https://www.ncbi.nlm.nih.gov/snp/
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![2017-04-27 6 04 36](https://cloud.githubusercontent.com/assets/28091169/25476104/0dafaf24-2b74-11e7-90fd-8511f34904c6.png)
왼쪽이 서버, 오른쪽이 제플린입니다.
몇몇개 수정이 필요한 부분이 있습니다!
- [ ] Disease name, Preva…
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It would be great to be able to pull `associated condition` information from Entrez via mygene.info.
For example, for BRAF (https://www.ncbi.nlm.nih.gov/gene/673):
Under phenotypes they list con…
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Dear MendelianRandomization authors, I seem to be getting this error. Might you happen to know the cause? Thanks. Esther
> head(tmp4)
V1 V2 V3 V4
1 0.328634 0.0765…