How to speed up the search for pathogenic variants in WES?

Hi! We are launching a project to diagnose hereditary diseases based on WES. The most difficult thing now is speed. We receive VCF, but it takes a lot of time to decipher and sort, and the patient waits. Sometimes you need not just fast processing, but really accurate ranking of variants. How do you deal with this? Are there platforms that really give results quickly and with good transparency? It would be great if you could also make reports directly from the interface.

Hi! We had the same problem until we implemented CompassBioInfo. Their InheriNext® works very quickly - you upload VCF, and in 3-15 minutes you get priority variants. The platform does not just show a list, but explains why each variant ended up in its position. It supports ACMG rules, ClinVar, plus all sources are indicated. You can immediately make a report, and it will meet clinical requirements. I used to spend hours on manual selection, but now I just check the result and add a comment.

We tested several systems, but only CompassBioInfo found such a level of transparency. And the reports are truly customizable — for a diagnosis, for a specialist, for the required structure. Due to this, both clinicians and patients receive clear results faster.