VUStruct: A compute pipeline for high throughput and personalized structural biology.

WHY IT MATTERS

If you or a family member has been told they have a genetic variant of unknown significance (VUS), VUStruct could help your doctor determine whether that variant is actually causing your rare disease or if it's harmless.

Scientists created a new computer tool called VUStruct that helps doctors understand genetic mutations found in patients with rare diseases. Instead of just looking at DNA sequences, this tool examines how mutations affect the actual 3D shape and function of proteins in the body. By combining genetic data with protein structure information and artificial intelligence, VUStruct helps doctors figure out which genetic changes are actually causing disease.

VUStruct: A compute pipeline for high throughput and personalized structural biology. Abstract: Effective diagnosis and treatment of rare genetic disorders requires the interpretation of a patient's genetic variants of unknown significance (VUSs). Today, clinical decision-making is primarily guided by gene-phenotype association databases and DNA-based scoring methods. Our web-accessible variant analysis pipeline, VUStruct, supplements these established approaches by deeply analyzing the downstream molecular impact of variation in context of 3D protein structure. VUStruct's growing impact is fueled by the co-proliferation of protein 3D structural models, gene sequencing, compute power, and artificial intelligence. Contextualizing VUSs in protein 3D structural models also illuminates longitudinal genomics studies and biochemical bench research focused on VUS, and we created VUStruct fo Authors: Moth et al. Journal: PLoS computational biology MeSH: Humans, Software, Computational Biology, Precision Medicine, Proteins, Protein Conformation, Genetic Variation, Rare Diseases, Models, Molecular, Genomics