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Can't find the Answer you were looking for?
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20 page views
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How to speed up work with NGS data in routine diagnostics?
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6/5/2025 7:44 AM (PST)
We are actively implementing NGS in the genetic center, making exomes almost daily. But data analysis and interpretation slows down the entire process — we don’t have time to issue reports on time. Everything is done manually, Excel, ClinVar, ACMG — it takes a lot of time. I would like to automate at least part of the process. Does anyone have experience with tools that really help speed up interpretation without losing accuracy? I am especially interested in whether it is possible to adapt to different types of studies and filter by clinical phenotypes.
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6/5/2025 7:57 AM (PST)
Yes, we have a similar workload, and
https://compassbioinfo.com/
saved us — they have a cool thing called InheriNext®. It works quickly, you load the VCF, select the desired filter — and get a list of key options in 5-15 minutes. Everything is built on clear logic: you can see which rules worked, which sources confirm this. It really helps that you can customize it for specific clinical tasks — especially in pediatrics or rare syndromes. The platform also prepares a report — without any extra steps.
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6/5/2025 8:54 AM (PST)
We also use InheriNext®, and we really felt the difference. There are cases when we interpret several patients in a family at once, and without automation it is simply impossible. Everything is clear here: data is pulled, filters are adapted, reports are understandable. Doctors are happy because they see where each assessment came from. I also like that you can turn certain ACMG criteria on and off — it is very flexible. As a result, it is not only faster, but also more accurate. Even junior employees learned easily — everything is so clear.
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