The Human Genome Structural Variation Consortium (HGSVC) is dedicated to a complete sequence-based understanding of the full spectrum of human genetic variation. Using cutting-edge genomic technologies, we focus on developing resources and computational approaches to fully characterize and integrate structural variants into their haplotypic context in order to understand their mutational mechanisms and functional consequences. This includes the development of graph-based genotyping approaches to more accurately assess their distribution in the human population as well as their role in gene expression and human disease.

 

Contact

hgsvc.contact@gmail.com