Johannes Helmuth

Results 24 comments of Johannes Helmuth

Also `ESRRA`, `KCNJ11`, `HLA-*` und `MUC-*` are recurrent usual suspects. Sometimes even variants are usual suspects, _e.g._ `NOTCH2` `1:120572547T>C` or `1:120572572C>T`

Kudos! It's still an issue in abra-2.23

In a recent tumor-only analysis I also observed this. I could not find any documentation why no hom_alt will be reported. There is some dicussion in [Chapter II E in...

> I checked the last two pairs closely and found that the unexpected TLEN should be caused by outward direction, like ``. I guess this is not an error about...

For me, the `wget`-based download process of the taxonomy failed randomly. The `rsync`-based download of the reference sequences does work correctly if your proxy supports rsync connections (see #114 )

Try ```bash sudo chmod 755 /bin/kraken* ``` or ```bash mkdir -p ~/bin/ cp /bin/kraken* ~/bin/kraken chmod 755 ~/bin/kraken export PATH=$PATH:~/bin/ ````

Seems the kraken-build binary does not have executable rights. Try `chmod 755 kraken-build`

I would also be highly interested in a `exomiser-rest-prioritiser-13.1.0.jar` to use the latest functional features and the 2202 data release. Last version has been exomiser-rest-prioritiser-12.1.0.jar (45.8 MB) from 23 Jan...

Any progress here? Any help needed?

https://github.com/exomiser/Exomiser/releases/tag/13.2.0 now provides `exomiser-rest-prioritiser-13.2.0.jar` :smile: