The UC Santa Cruz Genomics Institute fuses genomics, data sharing, and massive computing power to open the way for changing the parameters of medicine. This work is essential and foundational for future discovery of targeted treatments for diseases. More immediately, it creates an unprecedented opportunity for oncologists and others to compare what is known about a single case to the universe of what is known from millions of other cases.
The institute is working to establish new pathways and protocols for bringing together genomic and clinical information now scattered all over the world.
International global platform and standards
UC Santa Cruz is a partner in the the Global Alliance for Genomics & Health, an international organization composed of research, health care, and disease advocacy organizations that have taken the first steps to standardize and enable secure sharing of genomic and clinical data. David Haussler co-leads the alliance's Genomic Data Working Group, which concentrates on data representation, storage, and analysis. They are working with platform development partners and industry leaders to develop standards that will facilitate interoperability.
Human Genome Variation Map
The Human Genome Variation Map (HGVM) offers a comprehensive new representation of human genome variation. This critical new resource for the scientific and medical communities will enhance analysis and detection of both simple and genomically complex variants significant in conditions such as autism that have a hereditary component. Basic applications to genome science include a better understanding of recent human evolution, including the evolution of hard-to-map DNA such as mobile DNA elements.
Center for Big Data in Translational Genomics
The Center for Big Data in Translational Genomics is a multinational collaboration between academia and industry that will create data models and analysis tools to analyze massive data sets of genomic information. Such tools can be used to analyze genomes and gene expression data from thousands of individuals to uncover the contribution of gene variants to disease, with an initial focus on cancer. This knowledge will be instrumental in the development of precision diagnostic and treatment methods. The center will make software solutions interoperable by developing standard application programming interfaces (APIs) and tools at multiple levels, from raw sequence data to genetic variation and functional data, through to systems, pathways, and phenotypes. More
Single-cell genomic studies
UC Santa Cruz professor of biomolecular engineering Nader Pourmand has developed a novel approach to study the longitudinal genomics of single cells in vivo. This approach makes it possible to investigate basic mechanisms of neurodegeneration. His team developed an innovative nanopipette technology that can be used to study the genomics of single neurons with temporal resolution.