This poster explains work Genomenon supported that emerged from Alexion-AstraZeneca Rare Disease. This work applied the comprehensive variant landscape genomenon produced for Wilson disease. In collaboration with Alexion colleagues Tom DeFay and Bill Mowrey, we articulated a novel method to apply population-level data from the UK BioBank to our ATP7B variant landscape to identify variants with putative penetrance issues having been both published in association with numerous cogent clinical cases as well as seen at a higher than expected frequency in pre-screened healthy individuals in UKBB. This work in Wilson disease is a paradigm for future studies in other diseases and is an example of one such approach we are taking to curate the variant level data with a disease-specific context for application to newborn sequencing initiatives.
