CaptainHowdy.com The #1 Exorcist Fansite Since 1999
- This topic has 2 replies, 3 voices, and was last updated 5 months, 1 week ago by
.
-
Posts
-
Guys, hello everyone. Does anyone have experience with automatic interpretation of VCF files? We work with VES and sometimes WGS, there are a lot of options, and time is running out. We are looking for a platform that would quickly and accurately give priority options. It would be desirable to be able to see where a particular classification came from. It is very important to be able to adjust the filters yourself, without waiting a week for a response from support.
I recommend looking at https://compassbioinfo.com/ . Their InheriNext® platform does exactly what you are looking for. Upload a VCF — and in a few minutes you get a list of sorted options. All values ??can be expanded — it shows which ACMG rules were applied, what data from ClinVar was pulled up. It is convenient that you can save your filtering settings — for a specific type of disease. And the report is generated in a couple of clicks, including categories of options. We use it every day.
We have also implemented InheriNext® in our department. Before that, we were stuck with manual validation, but now everything has become much simpler. It is especially nice that you can quickly adapt it to specific cases – and this, as you know, is a separate headache. The platform allows you to critically evaluate each step, and not just blindly accept the results. This increases confidence in our work and in the doctors who then treat.
- You must be logged in to reply to this topic.