Colleagues, hello! If anyone knows, tell me what is currently used to interpret data when working with hereditary diseases? We started switching to NGS, but hit a bottleneck at the analysis stage. We need something that would process both FASTQ and VCF, preferably with filters by phenotypes. It would be great if the interface was not overloaded, and you could trust the results, rather than double-check everything manually. Is there something really convenient and accurate?

We have the same story. We switched to InheriNext®, and the work went much faster. We compared it with two other platforms — this one had better results and was more convenient. Another cool thing is that you can customize filters for a specific case. For example, we had a rare form of neurodegenerative disease, and filtering by phenotype worked great. And you can generate reports — it saves a lot of time, especially when you need to prepare materials for a consultation.