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as discussion in #210
>Genes as master entity and mRNAs as splice variants
Unpublishing mRNA, publishing gene, and migrating fields that were hard-coded for gene to mRNA will take care o…
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Support labeling for features like genes or small variants. For example, in an ideogram with a basic annotation showing the location of gene BRCA1, add an option to display the label "BRCA1" next to …
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Hi,
I've been using an old version of exomiser for a while. Recently I installed the version 12 and noticed some differences. When I run a family with 3 affected and 1 unaffected individuals using th…
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In getting the Example workflow to run on my data, I noticed a couple of problems and propose solutions (if I am not just doing something strange).
1. The .tsv file output by cis-splice-effects ide…
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Hi,
I wonder why `-` are not allowed in my reference. I had to use `_` to overcome this.
```
$ ./gofasta sam variants -a 7-WU-FF1.gff -s foo.sorted.sam
Error: Error parsing gff SeqID: 7-WU-FF
…
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e.g.
```
1. 1:12903124 (A->T) (GENE-NAME)
2. X:343941245 (G->C) (GENE-NAME2)
```
...
This is a nice way to quickly see all variants and diff different lists, as well as navigate to them i…
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Hello,
I'm using the DiGePred scores to annotate rare variants. In the Wiki page it is recommended to use "unaffected no gene overlap score" model. What threshold would you suggest for using scores f…
ghost updated
3 years ago
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We need to do a better job of differentiating between genes whose variants are causally related to disease and other genes, for instance those whose differential expression has been observed in diseas…
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We need a enable the search of variants in the OpenTargets platform search.
## Background
It should be possible to search on
- variant id (chr_pos_ref_alt)
- search on exact ”chr_pos_” …
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Basically, I navigate to a gene or variant and don't see my publication but it was already placed in the queue. In that way, the publication queue could be useful to someone looking to find informatio…