In next generation sequencing, exomes in particular, the challenge is to find relevant pathogenic gene variants among a sea of superfluous sequence changes. But the track record for filtering the most likely causative changes is dismal (20-25%). Most filtering methods remove common variants but do little else. Cytognomix has developed CytoVA, software that relates variants to patient peer-reviewed phenotypes in real time. We are adding this to our MutationForecaster system. Check it out!
We find and validate mutations that others cannot