Are there any convenient solutions for automating NGS interpretation?

[iri43185]

Colleagues, good day to all! We have encountered a problem in interpreting NGS results. We receive VCF files after sequencing, but then everything is done manually. A lot of time is spent sorting options, checking against databases, writing reports. Are there any services that help automate this and at the same time retain the ability to evaluate the result yourself? I am interested in real cases and personal experience. What do you use?

 

[vlad0211v]

Hi! We also went through this until we switched to Inheri Next. This is a platform where you can not only automate interpretation, but also really understand why the conclusion was made this way. For example, you can see what data was pulled from ClinVar, what rules worked, all in one click. It can work with FASTQ and VCF, gives quick results, reports can be made for the customer. And yes, you can compare and filter manually if something raises doubts. A very powerful tool, especially if there are many cases going on in parallel.

 

[b85000742]

We recently integrated this platform - both automation and control. The main thing is that the doctor can make a decision himself, and not just blindly follow the algorithm. This is important in a clinic. I recommend it!