Egor Dolzhenko

Thanks for clarifying. I have very little experience with VEP, but I will try to learn how it works and see what we could do to make TRGT more compatible...

Could you please try running the latest (pre-release) version of TRGT available [here](https://github.com/PacificBiosciences/trgt/issues/18#issuecomment-1823484698) with the `-vv` command line option to enable a more verbose output? Also, are you working with...

Thank you for bringing this up! We will add the loci you mentioned and start working on evaluating / improving reference coordinates of known pathogenic repeats.

Thanks for catching this! We are planning to implement support for [IUPAC codes](https://genome.ucsc.edu/goldenPath/help/iupac.html) in TRGT and TRVZ soon. When this is done, the N bases will no longer appear as...

Thanks for catching this, Zach. I confirm that this is a TRVZ bug. It will be fixed in the next release in a few weeks (led by @tmokveld). Meanwhile, a...

@zbonnstetter, we decided to release the fix now instead of waiting until the v1.0.0 release. Can I send you the binary for testing ahead of the release?

@zbonnstetter Thank you -- the binaries are attached! [trgt-v0.9.0-linux_x86_64.gz](https://github.com/PacificBiosciences/trgt/files/14892036/trgt-v0.9.0-linux_x86_64.gz) [trvz-v0.9.0-linux_x86_64.gz](https://github.com/PacificBiosciences/trgt/files/14892038/trvz-v0.9.0-linux_x86_64.gz)

Excellent -- thank you very much @zbonnstetter!

Thanks for the questions! You are looking into the supplementary TSV file generated by the "profile" command, right? If yes, the forth column says that the repeat unit (motif) is...

@sagnikbanerjee15 Thank you for letting me know. Would it be permissible for you to share parts of EHdn output for this sample? If yes, perhaps we could follow up by...