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Unsure where the original post went (I must have accidentally edited/removed it), but the variant in question is the following:
PRRT2 | NM_001256442.1 | c.649dupC | 397.73 | 0.270479% | Autosomal Do…
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Originally reported by: **Reece Hart (Bitbucket: [reece](http://bitbucket.org/reece), GitHub: [reece](http://github.com/reece))**
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**This is a proposal. Users…
reece updated
5 years ago
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The following command fails silently:
```bash
kipoi veff score_variants DeepBind/Homo_sapiens/TF/D00328.018_ChIP-seq_CTCF \
> --dataloader_args='{"fasta_file": "input/hg19.chr22.fa"}' \
> …
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@malachig commented on [Tue Dec 06 2016](https://github.com/griffithlab/civic-server/issues/264)
Currently CIViC only allows evidence that corresponds to peer reviewed publication indexed by PubMed.
…
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Hi Sigve,
Thanks for promptly fixing CPSR bugs. I got another one for you, below' the log:
```
cpsr.py --input_vcf SFRC01085__PRJ180621_SFRC01085-1MT-normal.vcf.gz pcgr . grch37 cpsr.toml SFRC0…
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Running MToolBox (with default parameters) on 2 samples returns this error:
```
##### ASSEMBLING MT GENOMES WITH ASSEMBLEMTGENOME...
WARNING: values of tail < 5 are deprecated and will be rep…
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Look at the known diagnoses where variant is part of Exomiser results but outside top 5 and assess what would improve the ranks for these i.e. better pheno-matching algorithms, better underlying pheno…
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Update the following URL to point to the GitHub repository of
the package you wish to submit to _Bioconductor_
- Repository: https://github.com/VilainLab/nanotatoR
Confirm the following by edit…
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Is this hg19/GRCH37? If so will there be a file for hg38/GRCh38. And if this hg38 will there be hg19? Would lifting over the positions suffice? Thanks and great work!
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Currently CIViC only allows evidence that corresponds to peer reviewed publication indexed by PubMed.
There are at least two other categories of sources that have been proposed:
- Certain conferen…