Collaboration Core
The collaborative core consists of expert research scientists and software engineers with multiple duties. They provide coding expertise for the Center investigators, establish infrastructure for the sustainable deployment of technologies developed by the Center, and act as the interactive arm with investigators on campus, thus enabling the application of methods to specific biomedical research problems. These interactions will highlight areas of development that the Center could consider depending on impact, relevance to the Center, and intellectual bandwidth.
AlphaMissense
AlphaMissense is an adaptation of AlphaFold fine-tuned on human and primate variant population frequency databases to predict missense variant pathogenicity. By combining structural context and evolutionary conservation, AlphaMissense achieves state-of-the-art results across a wide range of genetic and experimental benchmarks, all without explicitly training on such data. The average pathogenicity score of genes is also predictive for their cell essentiality, capable of identifying short essential genes that existing statistical approaches are underpowered to detect. As a resource to the community, we provide a database of predictions for all possible human single amino acid substitutions and classify 89 percent of missense variants as either likely benign or likely pathogenic.
Predictions may illuminate the molecular effects of variants on protein function, contribute to the identification of pathogenic missense mutations and previously unknown disease-causing genes, and increase the diagnostic yield of rare genetic diseases. AlphaMissense also fosters further development of specialized protein variant effect predictors from structure prediction models.
AlphaMissense Database
Portal to the searchable database of single point mutations predicted by AlphaMissense.
Data Science Institute
Vanderbilt Data Science is a leading research institution for AI and Data Science studies, whose collaborations with a variety of researchers across many disciplines at Vanderbilt University create lifelong communities and strong relationships at Vanderbilt and beyond.
ACCRE
The Advanced Computing Center for Research and Education (ACCRE) at Vanderbilt University is your gateway to cutting-edge computational resources. Whether you're tackling complex research in genetics, physics, or any field in between, our cluster computing technology empowers your work with exceptional speed and efficiency.