Hello, colleagues! For a couple of months now, I have been struggling with a project related to identifying the genetic causes of a rare hereditary disease. We use WGS, we have the data, but there is a problem with their interpretation - too many options, you can’t analyze everything manually. Tell me, how do you cope? Is there a tool that helps not only analyze VCF files, but also shows why one option is more important than another? It would be cool if reports could be generated quickly. I would be grateful for any tip!

We were also looking for a solution and came across Inheri Next - a platform from Compass Bioinformatics. Very convenient: you upload the data, and it ranks the options by clinical phenotypes. The main thing is that everything is transparent. You can see which ACMG rules worked, which examples from ClinVar are pulled up. And the reports are generated quickly, you can even customize them for yourself. The time from loading to the result is 15 minutes maximum. It really helps, especially if you need to work quickly.

We were just planning to review our pipeline. If InheriNext really works that fast, it will be a huge plus. I especially like that you can set up filters and control how the results are displayed yourself. This always increases confidence in the interpretation.