The VUStruct Pipeline is moving to Leipzig University. Unfortunately, web input of variants will not be possible during this transition.
The VUStruct backend will continue to run and we'd still welcome the opportunity to process variants for you. Please reach out to discuss your project.
Thanks for all the collaborators who made this possible. Please now cite: VUStruct: A compute pipeline for high throughput and personalized structural biology
If you have any difficulties using VUStruct, please Get in touch.Disease emergence through compound heterozygous variation is well understood. Individually, a Proband’s disease-free parents’ gene functions enough under single variation. But the combination of gene variants from each parent triggers creates the observed phenotype in the proband. Thus, compound heterozygous variant pairs are always given special attention in each week’s UDN review.
Multigenic disease can analogously arise when two genes in a single pathway are damaged via variations inherited from each parent.
An increasing database of annotated digenic(Gazzo et al. 2016) and multigenic(Nachtegael et al. 2022) diseases is being curated from the literature. Former Ph.D. student Souhrid Mukherjee asked whether latent digenic diseases might be predicted through machine learning strategies, and he produced a tool called DiGePred(Mukherjee et al. 2021) Another group broadened the training inputs, while retaining a similar machine architecture, to create DIEP(Yuan et al. 2022)
Add sample figure here.